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: 2700T>A; Asn900Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.

Genetics And Molecular Biology

Michels, Marcus M; Matte, Ursula U; Fraga, Lucas Rosa LR; Mancuso, Aline Castello Branco ACB; Ligabue-Braun, Rodrigo R; Berneira, Elias Figueroa Rodrigues EFR; Siebert, Marina M; Sanseverino, Maria Teresa Vieira MTV

Publication Date: 2019

Variant appearance in text: CFTR: Asn900Lys

PubMed Link: 31808782

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-42-3-2018-0148.pdf

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Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The Application Of Clinical Genetics

Sánchez, Karen K; de Mendonca, Elizabeth E; Matute, Xiorama X; Chaustre, Ismenia I; Villalón, Marlene M; Takiff, Howard H

Publication Date: 2016

Variant appearance in text: CFTR: 2700T>A; Asn900Lys

PubMed Link: 27022295

Variant Present in the following documents:

• Main text
• tacg-9-033.pdf

View BVdb publication page