Varaico: Literature-Extracted Genetic Variants

Gene:DONSON
Variant:p.W262Splc
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DONSON

NM_017613.4:p.W262Splc

Associated Papers

The DNA replication machinery transmits dual signals to prevent unscheduled licensing and execution of centrosome duplication.

Matsuhashi K et al.

Nature Communications, 2025

40921755 (PubMed )
Supplement: 41467_2025_63002_MOESM1_ESM.pdf

DONSON: Slding in 2 the limelight.

Stewart GS

Dna Repair, 2024

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.

Schulz S et al.

European Journal of Human Genetics : Ejhg, 2018

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ et al.

Nature Genetics, 2017

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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."