Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: CFTR: E583G; rs1421257199

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: E583G

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

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Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Cell

Mendoza, Juan L JL; Schmidt, André A; Li, Qin Q; Nuvaga, Emmanuel E; Barrett, Tyler T; Bridges, Robert J RJ; Feranchak, Andrew P AP; Brautigam, Chad A CA; Thomas, Philip J PJ

Publication Date: 2012-01-20

Variant appearance in text: CFTR: E583G

PubMed Link: 22265409

Variant Present in the following documents:

• Main text

View BVdb publication page