Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.Y55*
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CTSD

NM_001909.5:p.Y55*

Associated Papers

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Verot L et al.

Clinical Genetics, 2007

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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."