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: 148T>C; Ser50Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: 148T>C; S50P

PubMed Link: 35072004

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology

Ramalho, Anabela S AS; Lewandowska, Marzena A MA; Farinha, Carlos M CM; Mendes, Filipa F; Gonçalves, Juan J; Barreto, Celeste C; Harris, Ann A; Amaral, Margarida D MD

Publication Date: 2009

Variant appearance in text: CFTR: S50P

PubMed Link: 19910674

Variant Present in the following documents:

• Main text

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