Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.R399W
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DNM1

NM_001288739.2:p.R399W

Associated Papers

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Parthasarathy S et al.

American Journal of Human Genetics, 2022

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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."