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: 718_719insT; Lys240fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet Journal Of Rare Diseases

Fernández-Marmiesse, Ana A; Morey, Marcos M; Pineda, Merce M; Eiris, Jesús J; Couce, Maria Luz ML; Castro-Gago, Manuel M; Fraga, Jose Maria JM; Lacerda, Lucia L; Gouveia, Sofia S; Pérez-Poyato, Maria Socorro MS; Armstrong, Judith J; Castiñeiras, Daisy D; Cocho, Jose A JA

Publication Date: 2014-04-25

Variant appearance in text: HEXA: 718_719insT; K240fs

PubMed Link: 24767253

Variant Present in the following documents:

• Main text
• 1750-1172-9-59.pdf

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