Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.S238I
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DNM1

NM_004408.4:p.S238I

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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Li H et al.

Frontiers in Pharmacology, 2019

DNM1 encephalopathy: A new disease of vesicle fission.

von Spiczak S et al.

Neurology, 2017

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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."