Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R1081R
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POLG

NM_002693.3:p.R1081R

Associated Papers

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

Seed LM et al.

Molecular Genetics & Genomic Medicine, 2022

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S et al.

Human Mutation, 2013

The use of neuroimaging in the diagnosis of mitochondrial disease.

Friedman SD et al.

Developmental Disabilities Research Reviews, 2010

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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."