Varaico: Literature-Extracted Genetic Variants

Gene:DONSON
Variant:p.W228L
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DONSON

NM_017613.4:p.W228L

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

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

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

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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."