Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.A545S
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DYNC1H1

NM_001376.5:p.A545S

Associated Papers

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Proukakis C et al.

Human Mutation, 2003

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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."