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: ABCA4: V248M; rs200719724

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.

Experimental And Therapeutic Medicine

Chen, Xiangyu X; Deng, Sheng S; Xia, Hong H; Yuan, Lamei L; Xu, Hongbo H; Tang, Shiyu S; Deng, Hao H

Publication Date: 2020-10

Variant appearance in text: ABCA4: 742G>A

PubMed Link: 32855706

Variant Present in the following documents:

• Main text

View BVdb publication page