Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.A221G
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DNA2

NM_001080449.3:p.A221G

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.

Sun J et al.

Journal of Human Genetics, 2022

Multiple roles of DNA2 nuclease/helicase in DNA metabolism, genome stability and human diseases.

Zheng L et al.

Nucleic Acids Research, 2020

Novel mutations in DNA2 associated with myopathy and mtDNA instability.

Ronchi D et al.

Annals of Clinical and Translational Neurology, 2019

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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."