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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSK

Variant:p.L160F

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CTSK

NM_000396.4:p.L160F

hg38:chr1:150804159 T>G

Associated Papers

Novel mutation and white matter involvement in an Indian child with pycnodysostosis.

Singh A et al.

Indian Journal of Pediatrics, 2015

25304337 (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."