Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.R364ins2
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DNM1

NM_004408.4:p.R364ins2

Associated Papers

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.

Afsar T et al.

Frontiers in Pediatrics, 2023

Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.

Spoto G et al.

Frontiers in Neurology, 2022

Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Li H et al.

Frontiers in Pharmacology, 2019

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Kolnikova M et al.

Seizure, 2018

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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."