Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.M1insFs
Back to variants list

NPC2

NM_006432.5:p.M1insFs

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."