Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.L48P
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DNA2

NM_001080449.3:p.L48P

Associated Papers

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

Ay B et al.

American Journal of Medical Genetics. Part A, 2025

DNA2 enables growth by restricting recombination-restarted replication.

Hudson JJR et al.

Nature, 2025

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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."