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: C1410S

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Biochemistry

Alexander, Christopher C; Ivetac, Anthony A; Liu, Xuehong X; Norimatsu, Yohei Y; Serrano, Jose R JR; Landstrom, Allison A; Sansom, Mark M; Dawson, David C DC

Publication Date: 2009-10-27

Variant appearance in text: CFTR: C1410S

PubMed Link: 19754156

Variant Present in the following documents:

• Main text
• bi901314c.pdf

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CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Biophysical Journal

Serrano, José R JR; Liu, Xuehong X; Borg, Erik R ER; Alexander, Christopher S CS; Shaw, C Frank CF; Dawson, David C DC

Publication Date: 2006-09-01

Variant appearance in text: CFTR: C1410S

PubMed Link: 16766608

Variant Present in the following documents:

• Main text

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