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: L939P

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Incessant atrial and ventricular tachycardias associated with an SCN5A mutation.

Heartrhythm Case Reports

Papagiannis, John J; Yang, Tao T; Glazer, Andrew M AM; Tisma-Dupanovic, Svjetlana S; Avramidis, Dimosthenis D; Kannankeril, Prince J PJ; Viskin, Sami S; Walsh, Edward P EP; Roden, Dan M DM

Publication Date: 2021-12

Variant appearance in text: SCN5A: 2816T>C

PubMed Link: 34987964

Variant Present in the following documents:

• Main text
• main.pdf

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Structural insights into G domain dimerization and pathogenic mutation of OPA1.

The Journal Of Cell Biology

Yu, Caiting C; Zhao, Jinghua J; Yan, Liming L; Qi, Yuanbo Y; Guo, Xiangyang X; Lou, Zhiyong Z; Hu, Junjie J; Rao, Zihe Z

Publication Date: 2020-07-06

Variant appearance in text: HB1: L939P

PubMed Link: 32379273

Variant Present in the following documents:

• Main text
• JCB_201907098.pdf

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