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: 531dup; Gly178fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.

Orphanet Journal Of Rare Diseases

Yiallouros, Panayiotis K PK; Matthaiou, Andreas Μ AΜ; Anagnostopoulou, Pinelopi P; Kouis, Panayiotis P; Libik, Malgorzata M; Adamidi, Tonia T; Eleftheriou, Adonis A; Demetriou, Artemios A; Ioannou, Phivos P; Tanteles, George A GA; Costi, Constantina C; Fanis, Pavlos P; Macek, Milan M; Neocleous, Vassos V; Phylactou, Leonidas A LA

Publication Date: 2021-10-02

Variant appearance in text: CFTR: 531dupT; Gly178TrpfsX5

PubMed Link: 34600583

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2049.pdf

View BVdb publication page