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: FBN1: D2015N; rs768457461

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

Journal Of Cardiovascular Translational Research

Landis, Benjamin J BJ; Schubert, Jeffrey A JA; Lai, Dongbing D; Jegga, Anil G AG; Shikany, Amy R AR; Foroud, Tatiana T; Ware, Stephanie M SM; Hinton, Robert B RB

Publication Date: 2017-08

Variant appearance in text: FBN1: 6043G>A; Asp2015Asn

PubMed Link: 28550590

Variant Present in the following documents:

• Main text

View BVdb publication page