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MYBPC3 c.2149-182A>C
Variant ID: 11-47360412-T-G
NM_000256.3(
MYBPC3
):c.2149-182A>C
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
New Insights into Risk Genes and Their Candidates in Multiple Sclerosis.
Neurology International
Shirai, Remina R; Yamauchi, Junji J
Publication Date: 2022-12-29
Variant appearance in text: rs2269434
PubMed Link:
36648967
Variant Present in the following documents:
neurolint-15-00003.pdf
View BVdb publication page
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: rs2269434
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.
Nature Communications
,
Publication Date: 2019-05-20
Variant appearance in text: rs2269434
PubMed Link:
31110181
Variant Present in the following documents:
41467_2019_9773_MOESM1_ESM.pdf
41467_2019_9773_MOESM36_ESM.xlsx, sheet 1
View BVdb publication page
Metabolome-based signature of disease pathology in MS.
Multiple Sclerosis And Related Disorders
Andersen, S L SL; Briggs, F B S FBS; Winnike, J H JH; Natanzon, Y Y; Maichle, S S; Knagge, K J KJ; Newby, L K LK; Gregory, S G SG
Publication Date: 2019-06
Variant appearance in text: rs2269434
PubMed Link:
30877925
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: rs2269434
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
Table_5.xlsx, sheet 1
View BVdb publication page