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: 750del; Phe250fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

Hereditary Cancer In Clinical Practice

Ponti, Giovanni G; Losi, Lorena L; Martorana, Davide D; Priola, Manuela M; Boni, Elisa E; Pollio, Annamaria A; Neri, Tauro Maria TM; Seidenari, Stefania S

Publication Date: 2011-08-12

Variant appearance in text: NF1: 750delT; Phe250Leufs*31

PubMed Link: 21838856

Variant Present in the following documents:

• Main text
• 1897-4287-9-6.pdf

View BVdb publication page