Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.Q177E
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CTSD

NM_001909.5:p.Q177E

Associated Papers

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M et al.

Human Mutation, 2012

Analysis of NCL Proteins from an Evolutionary Standpoint.

Muzaffar NE et al.

Current Genomics, 2008

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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."