Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.E391*
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NPC1

NM_000271.5:p.E391*

Associated Papers

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.

Saneifard H et al.

Molecular Genetics and Metabolism Reports, 2024

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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."