Publications:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: COL4A5: 2959_2976del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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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: 2965_2982del; Asp989_Gly994del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Utility of Genomic Testing after Renal Biopsy.

American Journal Of Nephrology

Murray, Susan L SL; Dorman, Anthony A; Benson, Katherine A KA; Connaughton, Dervla M DM; Stapleton, Caragh P CP; Fennelly, Neil K NK; Kennedy, Claire C; McDonnell, Ciara A CA; Kidd, Kendrah K; Cormican, Sarah M SM; Ryan, Louise A LA; Lavin, Peter P; Little, Mark A MA; Bleyer, Anthony J AJ; Doyle, Brendan B; Cavalleri, Gianpiero L GL; Hildebrandt, Friedhelm F; Conlon, Peter J PJ

Publication Date: 2020

Variant appearance in text: COL4A5: 2959_2976del

PubMed Link: 31822006

Variant Present in the following documents:

• Main text

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