Varaico: Literature-Extracted Genetic Variants

Gene:CLDN10
Variant:p.G165A
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CLDN10

NM_006984.5:p.G165A

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

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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."