Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.G122R
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CLDN19

NM_148960.3:p.G122R

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

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Martin-Nuñez E et al.

World Journal of Pediatrics : Wjp, 2015

First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.

Yuan T et al.

Calcified Tissue International, 2015

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Claverie-Martín F et al.

Plos One, 2013

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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."