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: N/A

PubMed Link: 36413997

Variant Present in the following documents:

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Genome-wide association study on metabolite accumulation in a wild barley NAM population reveals natural variation in sugar metabolism.

Plos One

Gemmer, Mathias Ruben MR; Richter, Chris C; Schmutzer, Thomas T; Raorane, Manish L ML; Junker, Björn B; Pillen, Klaus K; Maurer, Andreas A

Publication Date: 2021

Variant appearance in text: ATM: L1189V

PubMed Link: 33592061

Variant Present in the following documents:

• pone.0246510.s018.xlsx, sheet 1

View BVdb publication page