Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.M603T
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POLG

NM_002693.3:p.M603T

Associated Papers

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Lessel I et al.

American Journal of Human Genetics, 2025

39798569 (PubMed )
Supplement: mmc1.pdf

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

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

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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."