Varaico: Literature-Extracted Genetic Variants

Gene:DNMT1
Variant:p.N545del1
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DNMT1

NM_001130823.3:p.N545del1

Associated Papers

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

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.

Fox R et al.

Journal of the Peripheral Nervous System : Jpns, 2016

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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."