Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.V67fs
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TBC1D24

NM_001199107.2:p.V67fs

Associated Papers

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

Tona R et al.

Genes, 2020

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Tona R et al.

Human Molecular Genetics, 2019

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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."