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: RB1: 106del; Asp36fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Characterization of the Portuguese population diagnosed with retinoblastoma.

Scientific Reports

Castela, Guilherme G; Providência, Joana J; Monteiro, Madalena M; Silva, Sonia S; Brito, Manuel M; Sá, Joaquim J; Oliveiros, Barbara B; Murta, Joaquim Neto JN; Correa, Zelia Z; Branco, Miguel Castelo MC

Publication Date: 2022-03-14

Variant appearance in text: RB1: 106del; Asp36Thrfs*29

PubMed Link: 35288594

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8326.pdf

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