Varaico: Literature-Extracted Genetic Variants

Gene:DONSON
Variant:p.M446T
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DONSON

NM_017613.4:p.M446T

Associated Papers

MCM5 UFMylation regulates replication origin firing and fork progression.

Li Z et al.

The Embo Journal, 2025

40940420 (PubMed )
Supplement: 44318_2025_562_MOESM2_ESM.pdf

DONSON: Slding in 2 the limelight.

Stewart GS

Dna Repair, 2024

In silico protein interaction screening uncovers DONSON's role in replication initiation.

Lim Y et al.

Science (new York, N.y.), 2023

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Nerakh G et al.

American Journal of Medical Genetics. Part A, 2022

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.

Knapp KM et al.

Journal of Medical Genetics, 2020

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.

Karaca E et al.

American Journal of Medical Genetics. Part A, 2019

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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