Varaico: Literature-Extracted Genetic Variants

Gene:DNMT1
Variant:p.L567P
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DNMT1

NM_001130823.3:p.L567P

Associated Papers

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

Yuan JH et al.

International Journal of Molecular Sciences, 2026

Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E).

Parissis D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.

Coelho P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

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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."