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: HR: C500R; rs758732740

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular characterization of KU70 and KU80 homologues and exploitation of a KU70-deficient mutant for improving gene deletion frequency in Rhodosporidium toruloides.

Bmc Microbiology

Koh, Chong Mei John CM; Liu, Yanbin Y; Moehninsi, ; Du, Minge M; Ji, Lianghui L

Publication Date: 2014-02-27

Variant appearance in text: HR: C500r

PubMed Link: 25188820

Variant Present in the following documents:

• Main text
• 1471-2180-14-50.pdf

View BVdb publication page