Varaico: Literature-Extracted Genetic Variants

Gene:NCBP1
Variant:p.S474L
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NCBP1

NM_002486.5:p.S474L

Associated Papers

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

Tarugi P et al.

Journal of Lipid Research, 2002

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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."