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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSD

Variant:p.L169P

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CTSD

NM_001909.5:p.L169P

hg38:chr11:1757522 A>G

Associated Papers

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S et al.

Biochimica Et Biophysica Acta, 2013

23274885 (PubMed )

Discovery of a novel noniminosugar acid α glucosidase chaperone series.

Xiao J et al.

Journal of Medicinal Chemistry, 2012

22834902 (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."