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: rs751951695

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

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Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Medical Journal Of The Islamic Republic Of Iran

Zahedi Abghari, Fateme F; Bayat, Fatemeh F; Razipour, Masoumeh M; Karimipoor, Morteza M; Taghavi-Basmenj, Maryam M; Zeinali, Sirous S; Davoudi-Dehaghani, Elham E

Publication Date: 2019

Variant appearance in text: NPC1: 1547G>A; Cys516Tyr; rs751951695

PubMed Link: 32280632

Variant Present in the following documents:

• Main text
• mjiri-33-126.pdf

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Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Cold Spring Harbor Molecular Case Studies

Rohanizadegan, Mersedeh M; Abdo, Sara M SM; O'Donnell-Luria, Anne A; Mihalek, Ivana I; Chen, Peggy P; Sanders, Marilyn M; Leeman, Kristen K; Cho, Megan M; Hung, Christina C; Bodamer, Olaf O

Publication Date: 2017-11

Variant appearance in text: NPC1: 1547G>A; Cys516Tyr

PubMed Link: 28802248

Variant Present in the following documents:

• Main text
• RohanizadeganMCS002147.pdf

View BVdb publication page