Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.L280delFs
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NPC1

NM_000271.5:p.L280delFs

Associated Papers

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.

Topçu M et al.

Molecular Diagnosis & Therapy, 2017

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

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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."