Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.T59N
Back to variants list

DNM1L

NM_012062.5:p.T59N

Associated Papers

Paroxysmal nocturnal dystonia in DNM1L-related syndrome.

Stretavská P et al.

Parkinsonism & Related Disorders, 2025

Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.

Baum TB et al.

Biorxiv : the Preprint Server for Biology, 2024

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Lhuissier C et al.

Frontiers in Neurology, 2022

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."