Varaico: Literature-Extracted Genetic Variants

Gene:CLDN10
Variant:p.P149R
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CLDN10

NM_006984.5:p.P149R

Associated Papers

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

Martínez-Romero MC et al.

Genes, 2024

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Qudair A et al.

European Journal of Medical Genetics, 2023

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

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Meyers N et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

Bongers EMHF et al.

Journal of the American Society of Nephrology : Jasn, 2017

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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."