Varaico: Literature-Extracted Genetic Variants

Gene:POLRMT
Variant:p.D870N
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POLRMT

NM_005035.4:p.D870N

Associated Papers

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Fassad MR et al.

Clinical Genetics, 2026

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

POLRMT mutations impair mitochondrial transcription causing neurological disease.

Oláhová M et al.

Nature Communications, 2021

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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."