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: 13G>T; Gly5Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome.

Genes

Nikolaou, Stavros S; Deltas, Constantinos C

Publication Date: 2022-10-18

Variant appearance in text: COL4A5: G5X

PubMed Link: 36292778

Variant Present in the following documents:

• Main text
• genes-13-01893.pdf

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X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Rheault, Michelle N MN; Kren, Stefan M SM; Hartich, Linda A LA; Wall, Melanie M; Thomas, William W; Mesa, Hector A HA; Avner, Philip P; Lees, George E GE; Kashtan, Clifford E CE; Segal, Yoav Y

Publication Date: 2010-03

Variant appearance in text: COL4A5: 13G>T

PubMed Link: 19854849

Variant Present in the following documents:

• Main text

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