Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.Y179H
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TMEM70

NM_017866.6:p.Y179H

Associated Papers

Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.

Moudian I et al.

Dna and Cell Biology, 2025

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

Tauchmannová K et al.

Physiological Research, 2024

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

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

Schijvens AM et al.

Kidney International Reports, 2020

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

Diodato D et al.

Jimd Reports, 2015

Nuclear genetic defects of mitochondrial ATP synthase.

Hejzlarová K et al.

Physiological Research, 2014

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

Atay Z et al.

Gene, 2013

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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."