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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.V1023F

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NPC1

NM_000271.5:p.V1023F

hg38:chr18:23536851 C>A

Associated Papers

Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Yoldas Celik M et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

39697013 (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."