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: COL4A5: 3178G>T; Gly1060Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.

Kidney International Reports

Bu, Lihong L; Chen, Judy J; Nelson, Andrew C AC; Katz, Avi A; Kashtan, Clifford E CE; Kim, Youngki Y; Pierpont, Mary Ella ME

Publication Date: 2019-07

Variant appearance in text: COL4A5: 3178G>T; Gly1060*

PubMed Link: 31312776

Variant Present in the following documents:

• Main text
• main.pdf

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Temporal macular thinning associated with X-linked Alport syndrome.

Jama Ophthalmology

Ahmed, Faisal F; Kamae, Kandon K KK; Jones, Denise J DJ; Deangelis, Margaret M MM; Hageman, Gregory S GS; Gregory, Martin C MC; Bernstein, Paul S PS

Publication Date: 2013-06

Variant appearance in text: COL4A5: G1060X

PubMed Link: 23572034

Variant Present in the following documents:

• Main text

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