Publications:

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: rs1407142143

PubMed Link: 33139814

Variant Present in the following documents:

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

View BVdb publication page

Dataset for a case report of a homozygous PEX16 F332del mutation.

Data In Brief

Bacino, Carlos C; Chao, Yu-Hsin YH; Seto, Elaine E; Lotze, Tim T; Xia, Fan F; Jones, Richard O RO; Moser, Ann A; Wangler, Michael F MF

Publication Date: 2016-03

Variant appearance in text: NPC1: C16Y

PubMed Link: 26870756

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page