Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.Y112*
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TMEM70

NM_017866.6:p.Y112*

Associated Papers

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Tauchmannová K et al.

Physiological Research, 2024

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Schijvens AM et al.

Kidney International Reports, 2020

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R et al.

Journal of Medical Genetics, 2011

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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."