Varaico: Literature-Extracted Genetic Variants

Gene:CLDN1
Variant:p.P200_K201del2
Back to variants list

CLDN1

NM_021101.5:p.P200_K201del2

Associated Papers

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.

Nagtzaam IF et al.

The British Journal of Dermatology, 2010

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."