Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.I1061insFs
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NPC1

NM_000271.5:p.I1061insFs

Associated Papers

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

Macías-Vidal J et al.

Molecular Genetics and Metabolism, 2009

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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."