Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.N1059S
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POLG

NM_002693.3:p.N1059S

Associated Papers

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.

Krenn M et al.

Journal of Neuromuscular Diseases, 2025

40910438 (PubMed )
Supplement: sj-xlsx-1-jnd-10.1177_22143602251370957.xlsx › Tabelle1

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.

Krenn M et al.

Journal of Neurology, 2024

38127101 (PubMed )
Supplement: 415_2023_12101_MOESM2_ESM.xlsx › Tabellenblatt1

Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.

Rantapero T et al.

Genes, 2020

32183364 (PubMed )
Supplement: genes-11-00314-s001.zip › genes-736952-supplementary.xlsx › Sheet1
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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."