DMD c.1688G>A ;(p.R563H)

Variant ID: X-32591878-C-T

NM_004006.2(DMD):c.1688G>A;(p.R563H)

This variant was identified in 2 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: DMD: 1688G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

European Journal Of Human Genetics : Ejhg
Mates, Jesus J; Mademont-Soler, Irene I; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Coll, Monica M; Pérez-Serra, Alexandra A; Picó, Ferran F; Allegue, Catarina C; Fernandez-Falgueras, Anna A; Álvarez, Patricia P; Yotti, Raquel R; Espinosa, Maria Angeles MA; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Carro, Ester E; Brugada, Josep J; Arbelo, Elena E; Garcia-Pavia, Pablo P; Borregan, Mar M; Tizzano, Eduardo E; López-Granados, Amador A; Mazuelos, Francisco F; Díaz de Bustamante, Aranzazu A; Darnaude, Maria Teresa MT; González-Hevia, José Ignacio JI; Díaz-Flores, Felícitas F; Trujillo, Francisco F; Iglesias, Anna A; Fernandez-Aviles, Francisco F; Campuzano, Oscar O; Brugada, Ramon R
Publication Date: 2018-07

Variant appearance in text: DMD: 1688G>A; Arg563His
PubMed Link: 29511324
Variant Present in the following documents:
  • Main text
View BVdb publication page