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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSD

Variant:p.M201I

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CTSD

NM_001909.5:p.M201I

hg38:chr11:1757425 C>T

Associated Papers

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E et al.

Brain : a Journal of Neurology, 2006

16670177 (PubMed )

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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."