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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAALC Gene

protein-coding   GIFtS: 52
GCID: GC08P104152

brain and acute leukemia, cytoplasmic

 Explore 8 diseases affiliated with
BAALC via our new
 Human Malady Compendium 
Biological research products
for BAALC
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Brain And Acute Leukemia, Cytoplasmic1 2
Brain And Acute Leukemia Cytoplasmic Protein2

External Ids:    HGNC: 143331   Entrez Gene: 798702   Ensembl: ENSG000001649297   OMIM: 6066025   UniProtKB: Q8WXS33   

Export aliases for BAALC gene to outside databases

Previous GC identifers: GC08P103158 GC08P104221 GC08P103821 GC08P104109 GC08P104222 GC08P099353


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAALC:
This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is
conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the
neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described
for this gene; however, some of the transcript variants are found only in AML cell lines. (provided by RefSeq, Jul
2008)

UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3
Function: May play a synaptic role at the postsynaptic lipid rafts by interacting with CAMK2A (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAALC gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAALC promoter sequence
   Search SABiosciences Chromatin IP Primers for BAALC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAALC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.3   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q22.3

BAALC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAALC gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P104152:  view genomic region     (about GC identifiers)

Start:
104,152,921 bp from pter      End:
104,242,533 bp from pter
Size:
89,613 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3 (See protein sequence)
Recommended Name: Brain and acute leukemia cytoplasmic protein  
Size: 180 amino acids; 19224 Da
Subunit: Interacts with CAMK2A (By similarity)
Subcellular location: Cytoplasm. Membrane. Note=Postsynaptic lipid rafts (By similarity)
Secondary accessions: Q8WTP6 Q8WXS0 Q8WXS1 Q8WXS2 Q9HA93
Alternative splicing: 6 isoforms:  Q8WXS3-1   Q8WXS3-2   Q8WXS3-3   Q8WXS3-4   Q8WXS3-5   Q8WXS3-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BAALC: NX_Q8WXS3

Post-translational modifications:

  • Palmitoylation and myristoylation target the protein to the lipid rafts (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WXS3

  • BAALC Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001019543.1  NP_079088.1  

    ENSEMBL proteins: 
     ENSP00000312457   ENSP00000395024   ENSP00000297574   ENSP00000302559   ENSP00000331579  

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    Uscn Proteins for BAALC

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0016020membrane IEA--


    BAALC for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BAALC for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009728 BAALC

    Graphical View of Domain Structure for InterPro Entry Q8WXS3

    ProtoNet protein and cluster: Q8WXS3


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3
    Function: May play a synaptic role at the postsynaptic lipid rafts by interacting with CAMK2A (By similarity)

    miRNA
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    hsa-miR-323-3p hsa-miR-4311 hsa-miR-186* hsa-miR-513a-5p hsa-miR-1233 hsa-miR-370 hsa-miR-629 hsa-miR-514
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    1 GenomeRNAi human phenotype for BAALC:
     High actin ratio cells 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BAALC

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BAALC (Q8WXS32, 3 ENSP000003124574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997502, 3, ENSP000002303214MINT-67748 I2D: score=5 STRING: ENSP00000230321
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAALC
    Search CenterWatch for drugs/clinical trials and news about BAALC 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAALC gene (2 alternative transcripts): 
    NM_001024372.1  NM_024812.2  

    Unigene Cluster for BAALC:

    Brain and acute leukemia, cytoplasmic
    Hs.533446  [show with all ESTs]
    Unigene Representative Sequence: NM_024812
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309982(uc003yld.3 uc003yle.3) ENST00000438105(uc010mcc.3)
    ENST00000297574 ENST00000306391 ENST00000330955 ENST00000519507 ENST00000517863
    ENST00000523754 ENST00000521926

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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate BAALC (see all 12):
    hsa-miR-323-3p hsa-miR-4311 hsa-miR-186* hsa-miR-513a-5p hsa-miR-1233 hsa-miR-370 hsa-miR-629 hsa-miR-514
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    Additional cDNA sequence: 

    AF371319.1 AF371323.1 AK022077.1 AK093819.1 AK310816.1 BC011517.1 BC014365.1 BC035038.2 

    10 DOTS entries:

    DT.443046  DT.95092573  DT.91918803  DT.100778235  DT.121479093  DT.121479250  DT.426517  DT.95092568 
    DT.95092571  DT.95092599 

    24/227 AceView cDNA sequences (see all 227):

    F12256 T33369 CR607637 BQ575423 BQ672359 T33887 Z44866 AI869984 
    CA424634 AW149362 R38507 BC035038 CA416942 T33437 BQ883985 BM717611 
    F04032 F04812 AI361572 BQ447214 CB153952 F05239 BM509802 AW292237 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BAALC    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:              -     -     -     -                     
    SP2:                          -                           
    SP3:              -     -                                 
    SP4:                          -     -                     


    ECgene alternative splicing isoforms for BAALC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAALC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATGTATGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    BAALC expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Posterior foregut-like cells (A scalable, suspensi...)

    See BAALC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAALC

    SOURCE GeneReport for Unigene cluster: Hs.533446

    UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3
    Tissue specificity: Expressed by neural and hematopoietic cells. Expression is found both in normal early progenitor
    cells and in the most immature type of blasts in acute leukemia but not in mature hematopoietic cells. Isoform 2 and
    isoform 6 are expressed in the brain. Isoform 2 shows a low expression in neuroectoderm-derived tissues such as
    adrenal gland and no expression in bone marrow, peripheral blood lymphocytes or lymph nodes, or in tumors or cancer
    cell lines of nonneural tissue origin

        SABiosciences Expression via Pathway-Focused PCR Array including BAALC: 
              Leukemia in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BAALC gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baalc1 , 5 brain and acute leukemia, cytoplasmic1, 5 86.44(n)1
    83.45(a)1
      15 (15.18 cM)5
    1184521  NM_080640.41  NP_542371.11 
     389331425 
    chicken
    (Gallus gallus)
    Aves BAALC1 brain and acute leukemia, cytoplasmic 66.18(n)
    56.52(a)
      420261  XM_418371.3  XP_418371.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1936816
    BX276101.16
    --
    33(a)
    33(a)
    possible ortholog
    1 ↔ 1
    16(56374765-56380372)
    20(19652718-19660936)


    ENSEMBL Gene Tree for BAALC (if available)
    TreeFam Gene Tree for BAALC (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1567 NCBI SNPs in BAALC are shown (see all 1567    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1894118121,2
    --104151075(+) TCCACC/TTCACC 3 -- int1 us2k10--------
    rs1407377911,2
    --104151118(+) CTCTAA/GCTCTT 3 -- us2k1 int10--------
    rs1812896871,2
    --104151130(+) CAGTTG/TCTTTC 3 -- us2k1 int10--------
    rs69992461,2
    C,F,A,--104151149(+) GAACTC/TCCCCA 3 -- us2k1 int15Minor allele frequency- T:0.12NA WA 244
    rs1129899771,2
    --104151152(+) CTCCCC/TCAGGA 3 -- us2k1 int12Minor allele frequency- T:0.05CSA WA 120
    rs126781761,2
    C,H,--104151269(+) AGGCTC/TTGCTA 3 -- int1 us2k11Minor allele frequency- T:0.50NA 2
    rs22561641,2
    C,F,A,H,--104151381(+) TAGGGC/AAGCCA 3 -- int1 us2k117Minor allele frequency- A:0.47EA NS NA WA CSA 1721
    rs69996221,2
    C,F,H,--104151423(+) TTACAC/TCTAAA 3 -- int1 us2k115Minor allele frequency- T:0.11NS NA WA 2052
    rs22561581,2
    C,F,H,--104151523(+) TGCTGG/CGCTCA 3 -- us2k1 int117Minor allele frequency- C:0.09EA NS NA WA CSA 2159
    rs1510447731,2
    --104151573(+) CTTTGC/TTCCCT 3 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for BAALC (104152921 - 104242533 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BAALC
         1 CNV: 65217
    Human Gene Mutation Database (HGMD): BAALC

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    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BAALC
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BAALC for disorders           About GeneDecksing

    OMIM gene information: 606602    OMIM disorders: --

    8 diseases for BAALC:    About MalaCards
    acute myeloid leukemia    myeloid leukemia    leukemia    acute leukemia
    acute lymphoblastic leukemia    lymphoblastic leukemia    chronic myeloid leukemia    hematopoiesis

    1 disease from the University of Copenhagen DISEASES database for BAALC:
    Acute myeloid leukemia

    Export disorders for BAALC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BAALC gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with BAALC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia. (PubMed id 11707601)1, 2, 3 Tanner S.M.... de La Chapelle A. (2001)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. miR-3151 interplays with its host gene BAALC and indep endently affects outcome of patients with cytogenetically normal acute myeloid l eukemia. (PubMed id 22529287)1 Eisfeld A.K....Bloomfield C.D. (2012)
    5. Histone post-translational modifications associated to BAALC expression in leukemic cells. (PubMed id 22197554)1 Franzoni A....Damante G. (2012)
    6. Prognostic significance of combined MN1, ERG, BAALC, a nd EVI1 (MEBE) expression in patients with myelodysplastic syndromes. (PubMed id 22488406)1 Thol F....Heuser M. (2012)
    7. Heritable polymorphism predisposes to high BAALC expre ssion in acute myeloid leukemia. (PubMed id 22493267)1 Eisfeld A.K....de la Chapelle A. (2012)
    8. Pediatric-inspired intensified therapy of adult T-ALL reveals the favorable outcome of NOTCH1/FBXW7 mutations, but not of low ERG/BA ALC expression: a GRAALL study. (PubMed id 21835957)1 Ben Abdelali R....Ifrah N. (2011)
    9. Presence of FLT3-ITD and high BAALC expression are in dependent prognostic markers in childhood acute myeloid leukemia. (PubMed id 21967978)1 Staffas A....Ehrencrona H. (2011)
    10. BAALC and ERG expression in acute myeloid leukemia wi th normal karyotype: impact on prognosis. (PubMed id 19555438)1 Eid M.A....Mahmoud L. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79870 HGNC: 14333 AceView: BAALC Ensembl:ENSG00000164929 euGenes: HUgn79870
    ECgene: BAALC H-InvDB: BAALC

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for BAALC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAALC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    Patent Information for BAALC gene:
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