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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSC

Variant:p.L196H

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CTSC

NM_001814.6:p.L196H

hg38:chr11:88309217 A>T

Associated Papers

CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.

Wu Y et al.

Oral Diseases, 2019

30908832 (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."