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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.Q442_V443Splc

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NPC1

NM_000271.5:p.Q442_V443Splc

hg38:chr18:23554986 T>C

Associated Papers

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Al-Jasmi FA et al.

Jimd Reports, 2013

23430803 (PubMed )

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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."