Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.E468*
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DNM1

NM_004408.4:p.E468*

Associated Papers

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.

Afsar T et al.

Frontiers in Pediatrics, 2023

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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."