Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.Q28*
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TIMM8A

NM_004085.4:p.Q28*

Associated Papers

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

Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.

Palmer CS et al.

Febs Letters, 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."