Varaico: Literature-Extracted Genetic Variants

Gene:TIMMDC1
Variant:p.R129*
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TIMMDC1

NM_016589.4:p.R129*

Associated Papers

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.

Kumar R et al.

Npj Genomic Medicine, 2022

Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.

Naber M et al.

European 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."