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: 2211G>A; Glu737=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: RB1: 2211G>A

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

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RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Bmc Genetics

Valverde, José R JR; Alonso, Javier J; Palacios, Itziar I; Pestaña, Angel A

Publication Date: 2005-11-04

Variant appearance in text: RB1: 2211G>A

PubMed Link: 16269091

Variant Present in the following documents:

• Main text
• 1471-2156-6-53.pdf

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