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: RYR1: V89M; rs757600766

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 265G>A; Val89Met; rs757600766

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Histone variants H2A.Z and H3.3 coordinately regulate PRC2-dependent H3K27me3 deposition and gene expression regulation in mES cells.

Bmc Biology

Wang, Yan Y; Long, Haizhen H; Yu, Juan J; Dong, Liping L; Wassef, Michel M; Zhuo, Baowen B; Li, Xia X; Zhao, Jicheng J; Wang, Min M; Liu, Cuifang C; Wen, Zengqi Z; Chang, Luyuan L; Chen, Ping P; Wang, Qian-Fei QF; Xu, Xueqing X; Margueron, Raphael R; Li, Guohong G

Publication Date: 2018-09-24

Variant appearance in text: MHS: V89M

PubMed Link: 30249243

Variant Present in the following documents:

• Main text
• 12915_2018_Article_568.pdf

View BVdb publication page