Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.G131insFs
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CTSC

NM_001814.6:p.G131insFs

Associated Papers

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Sprecher E et al.

The Journal of Investigative Dermatology, 2001

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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."