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: NF1: 4572C>G; Tyr1524Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: 4572C>G

PubMed Link: 22155606

Variant Present in the following documents:

• Main text

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Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Human Mutation

Garcia-Linares, Carles C; Fernández-Rodríguez, Juana J; Terribas, Ernest E; Mercadé, Jaume J; Pros, Eva E; Benito, Llúcia L; Benavente, Yolanda Y; Capellà, Gabriel G; Ravella, Anna A; Blanco, Ignacio I; Kehrer-Sawatzki, Hildegard H; Lázaro, Conxi C; Serra, Eduard E

Publication Date: 2011-01

Variant appearance in text: NF1: 4572C>G; Tyr1524X

PubMed Link: 21031597

Variant Present in the following documents:

• Main text

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