Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R251G
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DYNC1H1

NM_001376.5:p.R251G

Associated Papers

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.

Namdari M et al.

Molecular Genetics & Genomic Medicine, 2025

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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."