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: PC: R18Q; rs772650194

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology

Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J

Publication Date: 2021-02-05

Variant appearance in text: PC: 53G>A; R18Q

PubMed Link: 33546774

Variant Present in the following documents:

• 40164_2021_200_MOESM2_ESM.xlsx, sheet 1

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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Orphanet Journal Of Rare Diseases

Thoenes, Michaela M; Zimmermann, Ulrike U; Ebermann, Inga I; Ptok, Martin M; Lewis, Morag A MA; Thiele, Holger H; Morlot, Susanne S; Hess, Markus M MM; Gal, Andreas A; Eisenberger, Tobias T; Bergmann, Carsten C; Nürnberg, Gudrun G; Nürnberg, Peter P; Steel, Karen P KP; Knipper, Marlies M; Bolz, Hanno Jörn HJ

Publication Date: 2015-02-10

Variant appearance in text: PC: 53G>A

PubMed Link: 25759012

Variant Present in the following documents:

• 13023_2015_Article_238.pdf

View BVdb publication page