Varaico: Literature-Extracted Genetic Variants

Gene:CLDN10
Variant:p.K155Splc
Back to variants list

CLDN10

NM_006984.5:p.K155Splc

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."