Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.C1161Y
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NPC1

NM_000271.5:p.C1161Y

Associated Papers

A neuropathological cell model derived from Niemann-Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1-KEAP1-NRF2 Axis and impaired formation of neuronal networks.

Saito R et al.

Molecular Genetics and Metabolism Reports, 2021

Role of induced pluripotent stem cells in lysosomal storage diseases.

Kido J et al.

Molecular and Cellular Neurosciences, 2020

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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."