Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.S382*
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NPC1

NM_000271.5:p.S382*

Associated Papers

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Hahn JW et al.

Journal of Gastroenterology and Hepatology, 2024

Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.

Park SW et al.

The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2021

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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."