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: SCN5A: K590Q; rs1060501143

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Scientific Reports

Liu, Nana N; Zheng, Min M; Li, Shijie S; Bai, Hui H; Liu, Zhouying Z; Hou, Cui Hong CH; Zhang, Shu S; Pu, Jielin J

Publication Date: 2017-09-06

Variant appearance in text: SCN5A: Lys590Gln

PubMed Link: 28878402

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11211.pdf

View BVdb publication page