Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R3339H
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DYNC1H1

NM_001376.5:p.R3339H

Associated Papers

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Möller B et al.

Brain : a Journal of Neurology, 2025

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Gutiérrez-Delicado E et al.

Pediatric Neurology, 2025

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.

Badura-Stronka M et al.

Frontiers in Neurology, 2023

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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."