Varaico: Literature-Extracted Genetic Variants

Gene:CLDN10
Variant:p.R80G
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CLDN10

NM_006984.5:p.R80G

Associated Papers

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.

Martínez-Romero MC et al.

Genes, 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

Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.

Vargas-Poussou R

Pediatric Nephrology (berlin, Germany), 2022

A Novel Claudinopathy Based on Claudin-10 Mutations.

Milatz S

International Journal of Molecular Sciences, 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."