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: KIT: N77S; rs371353189

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic heterogeneity in hepatocellular carcinoma and paired bone metastasis revealed by next-generation sequencing.

International Journal Of Clinical And Experimental Pathology

Jin, Ketao K; Lan, Huanrong H; Wang, Xuanwei X; Lv, Jieqing J

Publication Date: 2017

Variant appearance in text: KIT: 230A>G; Asn77Ser

PubMed Link: 31966388

Variant Present in the following documents:

• Main text

View BVdb publication page