Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.G59R
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DCTN1

NM_004082.5:p.G59R

Associated Papers

Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.

Pasutharnchat N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Perry Disease: Bench to Bedside Circulation and a Team Approach.

Mishima T et al.

Biomedicines, 2024

An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.

He J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.

Tacik P et al.

The New Zealand Medical Journal, 2020

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Konno T et al.

Parkinsonism & Related Disorders, 2017

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.

Liu ZJ et al.

Neurobiology of Aging, 2014

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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."