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: SCN1A: M787V

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Plos One

Lee, Cha Gon CG; Lee, Jeehun J; Lee, Munhyang M

Publication Date: 2018

Variant appearance in text: SCN1A: Met787Val

PubMed Link: 29924869

Variant Present in the following documents:

• Main text
• pone.0199321.pdf

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Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Scientific Reports

Wang, Yimin Y; Du, Xiaonan X; Bin, Rao R; Yu, Shanshan S; Xia, Zhezhi Z; Zheng, Guo G; Zhong, Jianmin J; Zhang, Yunjian Y; Jiang, Yong-Hui YH; Wang, Yi Y

Publication Date: 2017-01-11

Variant appearance in text: SCN1A: Met787Val

PubMed Link: 28074849

Variant Present in the following documents:

• srep40319-s4.xls, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: M787V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page