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: LRP1: R1070W; rs756577980

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Whole-exome sequencing for variant discovery in blepharospasm.

Molecular Genetics & Genomic Medicine

Tian, Jun J; Vemula, Satya R SR; Xiao, Jianfeng J; Valente, Enza Maria EM; Defazio, Giovanni G; Petrucci, Simona S; Gigante, Angelo Fabio AF; Rudzińska-Bar, Monika M; Wszolek, Zbigniew K ZK; Kennelly, Kathleen D KD; Uitti, Ryan J RJ; van Gerpen, Jay A JA; Hedera, Peter P; Trimble, Elizabeth J EJ; LeDoux, Mark S MS

Publication Date: 2018-05-16

Variant appearance in text: LRP1: 3208C>T

PubMed Link: 29770609

Variant Present in the following documents:

• MGG3-6-601-s002.pdf

View BVdb publication page