Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.E45del1
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TIMM8A

NM_004085.4:p.E45del1

Associated Papers

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Wang H et al.

Human Genetics, 2024

38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4

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

Wang H et al.

Bmc Medical 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."