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: N/A

PubMed Link: 36413997

Variant Present in the following documents:

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Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

British Journal Of Anaesthesia

Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA

Publication Date: 2019-05

Variant appearance in text: RYR1: 11132C>T; rs375915752

PubMed Link: 30916033

Variant Present in the following documents:

• Main text

View BVdb publication page