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: GJB1: 132G>C; Trp44Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences

Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y

Publication Date: 2022-04-12

Variant appearance in text: GJB1: Trp44Cys

PubMed Link: 35457072

Variant Present in the following documents:

• Main text
• ijms-23-04255.pdf

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Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research

Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X

Publication Date: 2009-06-24

Variant appearance in text: GJB1: W44C

PubMed Link: 19230829

Variant Present in the following documents:

• Main text

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