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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MUM1L1 Gene

protein-coding GIFtS: 40
GCID: GC0XP105412

melanoma associated antigen (mutated) 1-like 1

Explore 1 disease affiliated with
MUM1L1 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Melanoma Associated Antigen (Mutated) 1-Like 1¹ ²
Mutated Melanoma-Associated Antigen 1-Like Protein 1² ³
MUM1-Like Protein 1² ³
FLJ33516¹
PWWP Domain-Containing Protein MUM1L1²

External Ids:	HGNC: 26583¹	Entrez Gene: 139221²	Ensembl: ENSG00000157502⁷	UniProtKB: Q5H9M0³

Export aliases for MUM1L1 gene to outside databases

Previous GC identifers: GC0XP105218 GC0XP095038

(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 MUM1L1:

This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain

mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants,

encoding the same protein, have been identified. (provided by RefSeq, Sep 2011)

(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_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MUM1L1 gene promoter:
RP58 FOXD3 Cdc5 Tal-1beta GATA-1 E47 AREB6 Meis-1a Meis-1 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MUM1L1 promoter sequence

Search SABiosciences Chromatin IP Primers for MUM1L1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUM1L1

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

Entrez Gene cytogenetic band: Xq22.3 Ensembl cytogenetic band: Xq22.3 HGNC cytogenetic band: Xq22.3

MUM1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUM1L1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP105412: view genomic region (about GC identifiers)

Start:	105,412,298 bp from pter	End:	105,452,949 bp from pter
Size:	40,652 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: MUML1_HUMAN, Q5H9M0 (See protein sequence)

Recommended Name: PWWP domain-containing protein MUM1L1

Size: 696 amino acids; 79040 Da

Sequence caution: Sequence=AAH31229.1; Type=Frameshift; Positions=406; Sequence=BAB71194.1; Type=Erroneous termination;

Positions=638; Note=Translated as Glu;

Secondary accessions: D3DUX2 Q49AS5 Q8N2C0 Q96MT6

Explore the universe of human proteins at neXtProt for MUM1L1: NX_Q5H9M0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5H9M0

MUM1L1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001164491.1 NP_689636.3

ENSEMBL proteins:

ENSP00000349699 ENSP00000361632 ENSP00000338641

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

ProtoNet protein and cluster: Q5H9M0

UniProtKB/Swiss-Prot: MUML1_HUMAN, Q5H9M0

Similarity: Belongs to the MUM1 family

Similarity: Contains 1 PWWP domain

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

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MUM1L1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUM1L1

(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 Central^TM Interacting Genes and Proteins Networks for MUM1L1

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

1 Interacting protein for MUM1L1 (ENSP00000349699⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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 MUM1L1
Search CenterWatch for drugs/clinical trials and news about MUM1L1 / MUML1

(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,
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About This Section

REFSEQ mRNAs for MUM1L1 gene (2 alternative transcripts):

NM_001171020.1 NM_152423.4

Unigene Cluster for MUM1L1:

Melanoma associated antigen (mutated) 1-like 1

Hs.592221 [show with all ESTs]

Unigene Representative Sequence: NM_152423

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000357175(uc004emf.2) ENST00000372552 ENST00000337685(uc004emg.2)

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		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate MUM1L1 (see all 29):
		hsa-miR-498 hsa-miR-3673 hsa-miR-520f hsa-miR-148b hsa-miR-218-1* hsa-miR-374a hsa-miR-340 hsa-miR-1297

		SwitchGear 3'UTR luciferase reporter plasmid: MUM1L1 3' UTR sequence

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Additional cDNA sequence:

AK056478.1 AK090835.1 BC031229.1 BC109292.1 BC109293.1

3 DOTS entries:

DT.412203 DT.95210305 DT.121324859

24/50 AceView cDNA sequences (see all 50):

AI769015 BX494230 CB242520 AA412505 AI417783 AA426624 NM_152423 BF195566

AI375830 BC031229 BI520465 AI967987 AA424844 AK056478 AI659599 AI185877

AA034405 AA382267 AK090835 BI461500 BP380097 BX494229 AW614042 AA393160

GeneLoc Exon Structure

(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

MUM1L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MUM1L1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MUM1L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MUM1L1

SOURCE GeneReport for Unigene cluster: Hs.592221

SABiosciences Custom PCR Arrays for MUM1L1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUM1L1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUM1L1

(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 MUM1L1 gene from 2/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GGA.7377⁶	Uncharacterized protein	32(a)	1 → many	28(2510984-2517868)
zebrafish (Danio rerio)	Actinopterygii	si:dkey-127k13.1⁶ si:dkey-57k2.7⁶	si:dkey-57k2.7	17(a) 12(a)	many ↔ many many ↔ many	2(37170127-37182556) 2(37181473-37183295)

ENSEMBL Gene Tree for MUM1L1 (if available)
TreeFam Gene Tree for MUM1L1 (if available)

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

Paralogs for MUM1L1 gene

MUM1²

2 SIMAP similar genes for MUM1L1 using alignment to 1 protein entry: MUML1_HUMAN:

MUM-1 MUM1

MUM1L1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for MUM1L1
PGOHUM00000241607 PGOHUM00000242087

(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

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs5962652^1,2	C,F,A,H	--	105410476(+)	`TAGAGC/TTGCAA`	2	--	us2k¹		11		NS EA NA	850
rs182433865^1,2		--	105410482(+)	`TGCAAA/TACTGA`	2	--	us2k¹		0	--	--	--	--
rs186215744^1,2		--	105410511(+)	`ATTATA/CTCAGA`	2	--	us2k¹		0	--	--	--	--
rs191087664^1,2		--	105410628(+)	`AACCCA/CTGGAA`	2	--	us2k¹		0	--	--	--	--
rs73521644^1,2	C	--	105410761(+)	`GTAACC/TTGATT`	2	--	us2k¹		1		WA	2
rs182829228^1,2		--	105410927(+)	`AAATGA/GTAACT`	2	--	us2k¹		0	--	--	--	--
rs187482458^1,2		--	105411021(+)	`ATCTTA/GAATAT`	2	--	us2k¹		0	--	--	--	--
rs56041758^1,2	C	--	105411406(+)	`TAACAG/TAACTC`	2	--	us2k¹		0	--	--	--	--
rs7062614^1,2	C,F,A,H	--	105411500(+)	`TTGAGA/CTTTCT`	2	--	us2k¹		8		NS EA NA	1086
rs1757443^1,2	C,H	--	105411518(+)	`GAAGTA/GAATAT`	2	--	us2k¹		8		WA NA CSA	13

HapMap Linkage Disequilibrium report for MUM1L1 (105412298 - 105452949 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MUM1L1
1 CNV: 8310
Locus Specific Mutation Databases (LSDB): MUM1L1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUM1L1

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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

MUM1L1 for disorders About GeneDecksing

1 disease for MUM1L1: About MalaCards

melanoma

Export disorders for MUM1L1 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 MUM1L1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MUM1L1)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 139221	HGNC: 26583	AceView: MUM1L1	Ensembl:ENSG00000157502	euGenes: HUgn139221
ECgene: MUM1L1	H-InvDB: MUM1L1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MUM1L1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MUM1L1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MUM1L1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MUM1L1 gene:
Search GeneIP for patents involving MUM1L1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	OriGene Custom Antibody Services for MUM1L1		OriGene Custom Protein Services for MUM1L1
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MUM1L1
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	GenScript Custom Purified and Recombinant Proteins Services for MUM1L1		GenScript cDNA clones with any tag delivered in your preferred vector for MUM1L1
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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	Regulatory tfbs in MUM1L1 promoter
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUM1L1

	SwitchGear 3'UTR luciferase reporter plasmids for MUM1L1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUM1L1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MUM1L1

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes MUM1L1 gene at Home site.

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MUM1L1 Gene

melanoma associated antigen (mutated) 1-like 1

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MUM1L1 Gene

melanoma associated antigen (mutated) 1-like 1

Aliasesfor MUM1L1 gene

Summariesfor MUM1L1 gene

Genomic Viewsfor MUM1L1 gene

Proteinsfor MUM1L1 gene

Protein Domains /Familiesfor MUM1L1 gene

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Disorders / Diseasesfor MUM1L1 gene

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External Searches for MUM1L1 gene

Genome Databases showing MUM1L1 gene

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Specialized Databases showing MUM1L1 gene

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for MUM1L1 gene

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for MUM1L1 gene

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for MUM1L1 gene

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for MUM1L1 gene

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