Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.W44_E45Splc
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TIMM8A

NM_004085.4:p.W44_E45Splc

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

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Wang H et al.

Bmc Medical Genetics, 2019

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Ha AD et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Tekin M et al.

Annals of Human Genetics, 2010

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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."