ACVRL1 c.1055C>A ;(p.A352D)

Variant ID: 12-52309826-C-A

NM_000020.2(ACVRL1):c.1055C>A;(p.A352D)

This variant was identified in 5 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: ACVRL1: 1055C>A; Ala352Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine
Major, Tamás T; Gindele, Réka R; Balogh, Gábor G; Bárdossy, Péter P; Bereczky, Zsuzsanna Z
Publication Date: 2021-04-14

Variant appearance in text: ACVRL1: 1055C>A
PubMed Link: 33919892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.

Internal Medicine (Tokyo, Japan)
Yokokawa, Tetsuro T; Sugimoto, Koichi K; Kimishima, Yusuke Y; Misaka, Tomofumi T; Yoshihisa, Akiomi A; Morisaki, Hiroko H; Yamada, Osamu O; Nakazato, Kazuhiko K; Ishida, Takafumi T; Takeishi, Yasuchika Y
Publication Date: 2020-01-15

Variant appearance in text: ACVRL1: A352D
PubMed Link: 31511490
Variant Present in the following documents:
  • Main text
  • 1349-7235-59-0221.pdf
View BVdb publication page



Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: ACVRL1: A352D
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09

Variant appearance in text:
PubMed Link: 16690726
Variant Present in the following documents:
  • Main text
View BVdb publication page