Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.V120fs
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CLDN1

NM_021101.5:p.V120fs

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

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

Salik D et al.

Pediatric Dermatology, 2022

Confirmation of the origin of NISCH syndrome.

Feldmeyer L et al.

Human Mutation, 2006

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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."