Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.A1187A
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NPC1

NM_000271.5:p.A1187A

Associated Papers

New variants in Spanish Niemann-Pick type c disease patients.

López de Frutos L et al.

Molecular Biology Reports, 2020

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

Fernandez-Valero EM et al.

Clinical Genetics, 2005

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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."