Varaico: Literature-Extracted Genetic Variants

Gene:NISCH
Variant:p.S193Y
Back to variants list

NISCH

NM_007184.4:p.S193Y

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."