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: rs199473441

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

Bmc Medical Genetics

Nishimura, Motoi M; Ueda, Marehiko M; Ebata, Ryota R; Utsuno, Emi E; Ishii, Takuma T; Matsushita, Kazuyuki K; Ohara, Osamu O; Shimojo, Naoki N; Kobayashi, Yoshio Y; Nomura, Fumio F

Publication Date: 2017-06-08

Variant appearance in text: KCNQ1: 1A>G

PubMed Link: 28595573

Variant Present in the following documents:

• Main text

View BVdb publication page