Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R1138H
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POLG

NM_002693.3:p.R1138H

Associated Papers

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B et al.

Plos One, 2015

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