Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R264Q
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DYNC1H1

NM_001376.5:p.R264Q

Associated Papers

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

Möller B et al.

Brain : a Journal of Neurology, 2025

Review: Cytoplasmic dynein motors in photoreceptors.

Dahl TM et al.

Molecular Vision, 2021

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Strickland AV et al.

Journal of Neurology, 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M et al.

Neurology, 2015

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.

Derksen A et al.

Child Neurology Open, 0

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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."