Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.Q34*
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TIMM8A

NM_004085.4:p.Q34*

Associated Papers

CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome.

Huang Y et al.

Cell Death & Disease, 2025

Reduced mitochondrial size in hippocampus and psychiatric behavioral changes in the mutant mice with homologous mutation of Timm8a1-I23fs49X.

Ouattara N et al.

Frontiers in Cellular Neuroscience, 2022

Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.

Song P et al.

Journal of Medical Genetics, 2021

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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."