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: P698L; rs764827921

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Clinical Genetics

Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM

Publication Date: 2016-06

Variant appearance in text: FBN1: 2093C>T; P698L

PubMed Link: 26621581

Variant Present in the following documents:

• Main text

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