Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R478Splc
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POLG

NM_002693.3:p.R478Splc

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.

Hong S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39763553 (PubMed )
Supplement: media-3.pdf

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S et al.

Journal of Medical Genetics, 2011

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