Varaico: Literature-Extracted Genetic Variants

Gene:CLDN14
Variant:p.L152V
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CLDN14

NM_001146079.2:p.L152V

Associated Papers

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.

Kim MA et al.

Plos One, 2014

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.

Wattenhofer M et al.

Human Mutation, 2005

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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."