Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.Y78H
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DCTN1

NM_004082.5:p.Y78H

Associated Papers

Current advances in the clinical management of Perry syndrome: is there hope for the future?

Chmiela T et al.

Expert Review of Neurotherapeutics, 2026

First family with Perry syndrome from Mexico.

Flores-Lagunes L et al.

Biomedical Reports, 2024

38978535 (PubMed )
Supplement: Supplementary_Data1.pdf

Perry Disease: Expanding the Genetic Basis.

Dulski J et al.

Movement Disorders Clinical Practice, 2023

A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up.

Pan X et al.

Behavioural Brain Research, 2023

Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Dulski J et al.

European Journal of Neurology, 2021

Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease.

Mishima T et al.

Parkinsonism & Related Disorders, 2021

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.

Čierny M et al.

Parkinsonism & Related Disorders, 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."