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: rs750033860

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Human Molecular Genetics

Bauer, Peter P; Balding, David J DJ; Klünemann, Hans H HH; Linden, David E J DE; Ory, Daniel S DS; Pineda, Mercè M; Priller, Josef J; Sedel, Frederic F; Muller, Audrey A; Chadha-Boreham, Harbajan H; Welford, Richard W D RW; Strasser, Daniel S DS; Patterson, Marc C MC

Publication Date: 2013-11-01

Variant appearance in text: NPC1: 1712A>G; Tyr571Cys

PubMed Link: 23773996

Variant Present in the following documents:

• Main text
• ddt284.pdf

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Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution.

The Journal Of Cell Biology

Malathi, Krishnamurthy K; Higaki, Katsumi K; Tinkelenberg, Arthur H AH; Balderes, Dina A DA; Almanzar-Paramio, Dorca D; Wilcox, Lisa J LJ; Erdeniz, Naz N; Redican, Francis F; Padamsee, Mahajabeen M; Liu, Ying Y; Khan, Sohail S; Alcantara, Frederick F; Carstea, Eugene D ED; Morris, Jill A JA; Sturley, Stephen L SL

Publication Date: 2004-02-16

Variant appearance in text: NPC1: Y571C

PubMed Link: 14970192

Variant Present in the following documents:

• Main text

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