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: S1082R; rs761952957

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs761952957

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.

Case Reports In Genetics

Panigrahi, Inusha I; Dhanorkar, Manoj M; Suthar, Renu R; Kumar, Chanchal C; Baalaaji, Mullai M; Thapa, Babu Ram BR; Kalra, Jasvinder J

Publication Date: 2019

Variant appearance in text: NPC1: 3246T>A; Ser1082Arg

PubMed Link: 31139477

Variant Present in the following documents:

• Main text
• CRIG2019-3108093.pdf

View BVdb publication page