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MTCH2 c.87+999A>G
Variant ID: 11-47662932-T-C
NM_014342.3(
MTCH2
):c.87+999A>G
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs7120548
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.
Children (Basel, Switzerland)
Močnik, Mirjam M; Zagradišnik, Boris B; Marčun Varda, Nataša N
Publication Date: 2022-08-21
Variant appearance in text: rs7120548
PubMed Link:
36010152
Variant Present in the following documents:
Main text
children-09-01262.pdf
View BVdb publication page
Association of Genetic Variants With Body-Mass Index and Blood Pressure in Adolescents: A Replication Study.
Frontiers In Genetics
Goulet, Danick D; O'Loughlin, Jennifer J; Sylvestre, Marie-Pierre MP
Publication Date: 2021
Variant appearance in text: rs7120548
PubMed Link:
34539733
Variant Present in the following documents:
Main text
fgene-12-690335.pdf
View BVdb publication page
Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.
Plos One
Karch, Celeste M CM; Ezerskiy, Lubov A LA; Bertelsen, Sarah S; , ; Goate, Alison M AM
Publication Date: 2016
Variant appearance in text: rs7120548
PubMed Link:
26919393
Variant Present in the following documents:
Main text
pone.0148717.pdf
View BVdb publication page
Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.
Molecular Metabolism
Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN
Publication Date: 2015-09
Variant appearance in text: rs7120548
PubMed Link:
26413465
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Connecting the dots: potential of data integration to identify regulatory SNPs in late-onset Alzheimer's disease GWAS findings.
Plos One
Rosenthal, Samantha L SL; Barmada, M Michael MM; Wang, Xingbin X; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2014
Variant appearance in text: rs7120548
PubMed Link:
24743338
Variant Present in the following documents:
Main text
pone.0095152.pdf
View BVdb publication page