Varaico: Literature-Extracted Genetic Variants

Gene:MICOS13
Variant:p.G15fs
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MICOS13

NM_205767.3:p.G15fs

Associated Papers

Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes.

Urbach J et al.

Biochimica Et Biophysica Acta. Biomembranes, 2021

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.

Wang H et al.

Frontiers in Cardiovascular Medicine, 2021

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.

Zeharia A et al.

European Journal of Human Genetics : Ejhg, 2016

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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."