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: 3154C>T; Gln1052Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience

Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH

Publication Date: 2022-03-18

Variant appearance in text: COL4A5: Q1052X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Journal Of The American Society Of Nephrology : Jasn

Morinière, Vincent V; Dahan, Karin K; Hilbert, Pascale P; Lison, Marieline M; Lebbah, Said S; Topa, Alexandra A; Bole-Feysot, Christine C; Pruvost, Solenn S; Nitschke, Patrick P; Plaisier, Emmanuelle E; Knebelmann, Bertrand B; Macher, Marie-Alice MA; Noel, Laure-Hélène LH; Gubler, Marie-Claire MC; Antignac, Corinne C; Heidet, Laurence L

Publication Date: 2014-12

Variant appearance in text: COL4A5: Gln1052*

PubMed Link: 24854265

Variant Present in the following documents:

• Main text

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