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: rs528841924

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Genome Research

Erwood, Steven S; Brewer, Reid A RA; Bily, Teija M I TMI; Maino, Eleonora E; Zhou, Liangchi L; Cohn, Ronald D RD; Ivakine, Evgueni A EA

Publication Date: 2019-12

Variant appearance in text: NPC1: D898N

PubMed Link: 31754021

Variant Present in the following documents:

• Main text
• 2010.pdf
• supp_gr.250720.119_SupplementalTables.xlsx, sheet 2

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NPC1: D898N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Orphanet Journal Of Rare Diseases

Abela, Lucia L; Plecko, Barbara B; Palla, Antonella A; Burda, Patricie P; Nuoffer, Jean-Marc JM; Ballhausen, Diana D; Rohrbach, Marianne M

Publication Date: 2014-11-26

Variant appearance in text: NPC1: Asp898Asn

PubMed Link: 25425405

Variant Present in the following documents:

• Main text
• 13023_2014_Article_176.pdf

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