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: CFTR: 743+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs397508791

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

European Journal Of Human Genetics : Ejhg

René, Céline C; Paulet, Damien D; Girodon, Emmanuelle E; Costa, Catherine C; Lalau, Guy G; Leclerc, Julie J; Cabet-Bey, Faïza F; Bienvenu, Thierry T; Blayau, Martine M; Iron, Albert A; Mittre, Hervé H; Feldmann, Delphine D; Guittard, Caroline C; Claustres, Mireille M; Georges, Marie des Md

Publication Date: 2011-01

Variant appearance in text: CFTR: 743+1G>A

PubMed Link: 20717170

Variant Present in the following documents:

• Main text

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