Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.Q75*
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TIMM8A

NM_004085.4:p.Q75*

Associated Papers

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

Outcomes of cochlear implantation in 75 patients with auditory neuropathy.

Wu J et al.

Frontiers in Neuroscience, 2023

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

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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."