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: T305A; rs758035051

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

Molecular Medicine Reports

Ma, Mingjia M; Li, Zongzhe Z; Wang, Dao Wen DW; Wei, Xiang X

Publication Date: 2016-07

Variant appearance in text: FBN1: 913A>G; Thr305Ala

PubMed Link: 27175573

Variant Present in the following documents:

• Main text
• mmr-14-01-0151.pdf

View BVdb publication page