Varaico: Literature-Extracted Genetic Variants

Gene:CTSG
Variant:p.R239insFs
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CTSG

NM_001911.3:p.R239insFs

Associated Papers

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA et al.

Molecular Diagnosis & Therapy, 2017

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.

Raghunath M et al.

The Journal of Investigative Dermatology, 2004

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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."