Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.P939L
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NPC1

NM_000271.5:p.P939L

Associated Papers

Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.

Chen F et al.

Frontiers in Genetics, 2022

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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."