Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R1047Q
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POLG

NM_002693.3:p.R1047Q

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Menezes MP et al.

Mitochondrion, 2016

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Zhang L et al.

Archives of Pathology & Laboratory Medicine, 2011

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD et al.

Cellular and Molecular Life Sciences : Cmls, 2011

Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.

Chan SS et al.

Methods in Molecular Biology (clifton, N.j.), 2009

Inherited mitochondrial diseases of DNA replication.

Copeland WC

Annual Review of Medicine, 2008

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A et al.

Neurology, 2003

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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."