Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.T519A
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PDP1

NM_018444.4:p.T519A

Associated Papers

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

Significance of Mitochondria DNA Mutations in Diseases.

Zhu Z et al.

Advances in Experimental Medicine and Biology, 2017

[Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies].

Xu JB et al.

Zhonghua Yi Xue Za Zhi, 2011

Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China.

Guo YF et al.

Genetic Testing and Molecular Biomarkers, 2010

Mitochondrial rRNA and tRNA and hearing function.

Xing G et al.

Cell Research, 2007

Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies.

Qi Y et al.

Mitochondrion, 0

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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."