Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.W18*
Back to variants list

CLDN19

NM_148960.3:p.W18*

Associated Papers

Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Girón-Ortega M et al.

Ophthalmic Genetics, 2024

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.

Khan AO et al.

Ophthalmic Genetics, 2018

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.

Godron A et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2012

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."