Varaico: Literature-Extracted Genetic Variants

Gene:DNMT1
Variant:p.E575K
Back to variants list

DNMT1

NM_001130823.3:p.E575K

Associated Papers

Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.

Yuan JH et al.

International Journal of Molecular Sciences, 2026

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.

Maresca A et al.

Human Molecular Genetics, 2020

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

Postiglione E et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."