MYBPC3 c.2413+1G>A

Variant ID: 11-47359240-C-T

NM_000256.3(MYBPC3):c.2413+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYBPC3: 2413+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYBPC3: 2413+1G>A
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?

Global Cardiology Science & Practice
Jaafar, Nawel N; Girolami, Francesca F; Zairi, Ihsen I; Kraiem, Sondes S; Hammami, Mohamed M; Olivotto, Iacopo I
Publication Date: 2015

Variant appearance in text: MYBPC3: 2413+1G>A
PubMed Link: 26779504
Variant Present in the following documents:
  • Main text
View BVdb publication page