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: DMD: S3537T; rs150957972

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.

Plos One

Na, Insung I; Redmon, Derek D; Kopa, Markus M; Qin, Yiru Y; Xue, Bin B; Uversky, Vladimir N VN

Publication Date: 2013

Variant appearance in text: rs150957972

PubMed Link: 24014171

Variant Present in the following documents:

• Main text
• pone.0073476.pdf

View BVdb publication page