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.




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