Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1D
Variant:p.P82L
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ATP5F1D

NM_001687.5:p.P82L

Associated Papers

From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.

Garone C et al.

Life (basel, Switzerland), 2022

Mitochondrial Neurodegeneration.

Zeviani M et al.

Cells, 2022

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira JD et al.

Genes, 2021

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].

Baranowska E et al.

Postepy Biochemii, 2018

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M et al.

American Journal of Human Genetics, 2018

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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."