Varaico: Literature-Extracted Genetic Variants

Gene:CLDN10
Variant:p.M1T
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CLDN10

NM_006984.5:p.M1T

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

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

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

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Hadj-Rabia S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Novel Aspects of Renal Magnesium Homeostasis.

Giménez-Mascarell P et al.

Frontiers in Pediatrics, 2018

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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."