Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.T655A
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DNA2

NM_001080449.3:p.T655A

Associated Papers

DNA2 enables growth by restricting recombination-restarted replication.

Hudson JJR et al.

Nature, 2025

A DNA2 mutation in the ATP-binding motif identified in a diagnostically unresolved individual.

Saito K et al.

Frontiers in Molecular Biosciences, 2025

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Di Lazzaro Filho R et al.

Journal of Medical Genetics, 2023

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

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž et al.

Human Mutation, 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."