Varaico: Literature-Extracted Genetic Variants

Gene:SCAP
Variant:p.C41Splc
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SCAP

NM_012235.4:p.C41Splc

Associated Papers

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I et al.

Jimd Reports, 2017

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G et al.

American Journal of Human Genetics, 2001

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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."