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: TTN: P2430L; rs775687221

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Investigating the structural dynamics of the PIEZO1 channel activation and inactivation by coarse-grained modeling.

Proteins

Zheng, Wenjun W; Sachs, Frederick F

Publication Date: 2017-12

Variant appearance in text: TMD: P2430L

PubMed Link: 28905417

Variant Present in the following documents:

• Main text

View BVdb publication page