Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.H396D
Back to variants list

DNM1

NM_004408.4:p.H396D

Associated Papers

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.

Afsar T et al.

Frontiers in Pediatrics, 2023

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.

Asinof SK et al.

Plos Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."