Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.Y47*
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CLDN1

NM_021101.5:p.Y47*

Associated Papers

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.

Ghosh U et al.

Clinical and Experimental Pediatrics, 2025

Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome with a novel Claudin-1 (CLDN1) mutation: A report from India.

Mathews J et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

Unveiling a novel gene mutation in neonatal ichthyosis-sclerosing cholangitis syndrome with progressive liver disease.

Danish M et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."