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: MYOC: E115K; rs757551979

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Scientific Reports

O'Gorman, Luke L; Cree, Angela J AJ; Ward, Daniel D; Griffiths, Helen L HL; Sood, Roshan R; Denniston, Alastair K AK; Self, Jay E JE; Ennis, Sarah S; Lotery, Andrew J AJ; Gibson, Jane J

Publication Date: 2019-02-28

Variant appearance in text: MYOC: E115K; rs757551979

PubMed Link: 30816137

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38760.pdf

View BVdb publication page