Varaico: Literature-Extracted Genetic Variants

Gene:POLRMT
Variant:p.K1087R
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POLRMT

NM_005035.4:p.K1087R

Associated Papers

Mitochondrial diseases caused by mtDNA mutations: a mini-review.

Ryzhkova AI et al.

Therapeutics and Clinical Risk Management, 2018

Mitochondrial DNA density homeostasis accounts for a threshold effect in a cybrid model of a human mitochondrial disease.

Aryaman J et al.

The Biochemical Journal, 2017

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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."