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: DNAH11: M206I; rs374350787

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics

Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J

Publication Date: 2015-05

Variant appearance in text: DNAH11: M206I

PubMed Link: 25822088

Variant Present in the following documents:

• NIHMS62359-supplement-Table3.xlsx, sheet 1

View BVdb publication page