Varaico: Literature-Extracted Genetic Variants

Gene:CLDN2
Variant:p.G161R
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CLDN2

NM_020384.4:p.G161R

Associated Papers

Functional analysis reveals calcium-sensing receptor gene regulating cell-cell junction in renal tubular epithelial cells.

Zhou Z et al.

International Urology and Nephrology, 2024

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.

Sewerin S et al.

Genes & Diseases, 2022

35873018 (PubMed )
Supplement: mmc1.pdf

Genetic variation in claudin-2, hypercalciuria, and kidney stones.

Gillion V et al.

Kidney International, 2020

Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease.

Curry JN et al.

The Journal of Clinical Investigation, 2020

Identification of a missense variant in CLDN2 in obstructive azoospermia.

Askari M et al.

Journal of Human Genetics, 2019

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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."