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: NPC1: Y628S

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Structural basis for itraconazole-mediated NPC1 inhibition.

Nature Communications

Long, Tao T; Qi, Xiaofeng X; Hassan, Abdirahman A; Liang, Qiren Q; De Brabander, Jef K JK; Li, Xiaochun X

Publication Date: 2020-01-09

Variant appearance in text: NPC1: Y628S

PubMed Link: 31919352

Variant Present in the following documents:

• Main text
• 41467_2019_Article_13917.pdf

View BVdb publication page