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: TG: 2883del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.

Frontiers In Genetics

Khandakji, Mohannad N MN; Mifsud, Borbala B

Publication Date: 2022

Variant appearance in text: TG: 2883del

PubMed Link: 36246618

Variant Present in the following documents:

• Table1.xlsx, sheet 3

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The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition.

Plos One

Solazzo, Andrea A; Testa, Francesca F; Giovanella, Silvia S; Busutti, Marco M; Furci, Luciana L; Carrera, Paola P; Ferrari, Maurizio M; Ligabue, Giulia G; Mori, Giacomo G; Leonelli, Marco M; Cappelli, Gianni G; Magistroni, Riccardo R

Publication Date: 2018

Variant appearance in text: TG: 2884delG

PubMed Link: 29338003

Variant Present in the following documents:

• Main text
• pone.0190430.pdf

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