Varaico: Literature-Extracted Genetic Variants

Gene:DNMT1
Variant:p.R598W
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DNMT1

NM_001130823.3:p.R598W

Associated Papers

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

Yuan JH et al.

International Journal of Molecular Sciences, 2026

Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.

Kikuchi JK et al.

Journal of Molecular Neuroscience : Mn, 2021

Expanded genetic insight and clinical experience of DNMT1-complex disorder.

Bi H et al.

Neurology. Genetics, 2020

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).

Catania A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."