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: 2057del; Pro686fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.

Molecular Genetics & Genomic Medicine

Helle, Ole Magnus Bjorgaas OMB; Pedersen, Torkild Høieggen TH; Ousager, Lilian Bomme LB; Thomassen, Mads M; Hertz, Jens Michael JM

Publication Date: 2020-10

Variant appearance in text: COL4A5: 2057delC; Pro686fs

PubMed Link: 32812400

Variant Present in the following documents:

• Main text

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Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports

Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N

Publication Date: 2018-05

Variant appearance in text: COL4A5: 2057del

PubMed Link: 29854973

Variant Present in the following documents:

• Main text
• main.pdf

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