Varaico: Literature-Extracted Genetic Variants

Gene:DNMT1
Variant:p.Y524D
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DNMT1

NM_001379.4:p.Y524D

Associated Papers

[Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report].

Hayashida H et al.

Rinsho Shinkeigaku = Clinical Neurology, 2024

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

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Baets J et al.

Brain : a Journal of Neurology, 2015

[A case of hereditary sensory autonomic neuropathy type II with late onset].

Shimoya K et al.

Rinsho Shinkeigaku = Clinical Neurology, 1999

[A sporadic case of hereditary sensory neuropathy with tonic pupil, ichthyosis vulgaris, deafness and atypical retinitis pigmentosa (author's transl)].

Saito T et al.

Rinsho Shinkeigaku = Clinical Neurology, 1980

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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."