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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSC

Variant:p.D328_P330delFs

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CTSC

NM_001814.6:p.D328_P330delFs

hg38:chr11:88294406 CATGGAGA>C

Associated Papers

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

39164687 (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."