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: 1766+3A>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

Frontiers In Genetics

El-Seedy, Ayman S AS; Shafiek, Hanaa H; Kitzis, Alain A; Ladevèze, Véronique V

Publication Date: 2017

Variant appearance in text: CFTR: 1766+3A>C

PubMed Link: 28408918

Variant Present in the following documents:

• Main text
• fgene-08-00037.pdf

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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Human Molecular Genetics

Fernandez Alanis, Eugenio E; Pinotti, Mirko M; Dal Mas, Andrea A; Balestra, Dario D; Cavallari, Nicola N; Rogalska, Malgorzata E ME; Bernardi, Francesco F; Pagani, Franco F

Publication Date: 2012-06-01

Variant appearance in text: CFTR: 1766+3A>C

PubMed Link: 22362925

Variant Present in the following documents:

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