Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.V240_H241insFs
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CTSC

NM_001814.6:p.V240_H241insFs

Associated Papers

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Chavanas S et al.

Nature Genetics, 2000

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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."