Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.N222T
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NPC1

NM_000271.5:p.N222T

Associated Papers

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.

Sidhu R et al.

Molecular Genetics and Metabolism, 2020

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X et al.

Science Translational Medicine, 2016

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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."