Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R993H
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POLG

NM_002693.3:p.R993H

Associated Papers

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.

Dev P et al.

Plos One, 2026

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

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

Singh B et al.

Plos One, 2015

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