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: HEXA: 346+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA.

Human Genome Variation

Dastsooz, Hassan H; Alipour, Mohsen M; Mohammadi, Sanaz S; Kamgarpour, Fatemeh F; Dehghanian, Fatemeh F; Fardaei, Majid M

Publication Date: 2018

Variant appearance in text: HEXA: 346+1G>A

PubMed Link: 31428437

Variant Present in the following documents:

• Main text

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