Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.M1I
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NPC2

NM_006432.5:p.M1I

Associated Papers

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

Seker Yilmaz B et al.

International Journal of Molecular Sciences, 2020

[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].

Yang R et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Zhang H et al.

Orphanet Journal of Rare Diseases, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."