Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.G123R
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CLDN19

NM_148960.3:p.G123R

Associated Papers

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.

Seker M et al.

International Journal of Molecular Sciences, 2019

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Claverie-Martin F

Clinical Kidney Journal, 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

Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Haisch L et al.

Annals of the New York Academy of Sciences, 2012

The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.

Haisch L et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011

Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.

Naeem M et al.

American Journal of Nephrology, 2011

Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.

Hou J et al.

The Journal of Clinical Investigation, 2008

Lecture: New light on the role of claudins in the kidney.

Hou J

Organogenesis, 0

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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."