Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.Q93_I94Splc
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DCTN1

NM_004082.5:p.Q93_I94Splc

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

A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses.

Tian W et al.

Acta Neurologica Belgica, 2024

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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."