Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.M1001T
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NPC1

NM_000271.5:p.M1001T

Associated Papers

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.

Adebali O et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

26890452 (PubMed )
Supplement: gim2015208x1.zip › S1_Table.xls › Sheet1

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

Bauer P et al.

Human Molecular Genetics, 2013

Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.

Kannan P et al.

Journal of Biomolecular Structure & Dynamics, 0

36264126 (PubMed )
Supplement: supplement_1.docx
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