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: 6408G>A; Trp2136Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.

Annals Of Translational Medicine

Xiao, Tiantian T; Wu, Bingbing B; Cao, Yun Y; Liu, Renchao R; Cheng, Guoqiang G; Wang, Laishuan L; Zhuang, Deyi D; Zhao, Zhengyan Z; Wang, Huijun H; Zhou, Wenhao W

Publication Date: 2021-05

Variant appearance in text: DMD: 6408G>A; Trp2136Ter

PubMed Link: 34268379

Variant Present in the following documents:

• Main text
• atm-09-09-766-prf.pdf
• atm-09-09-766.pdf

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