Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R254G
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DYNC1H1

NM_001376.5:p.R254G

Associated Papers

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.

Nurputra DK et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

TFAP2A mutations result in branchio-oculo-facial syndrome.

Milunsky JM et al.

American Journal of Human Genetics, 2008

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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."