Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.V41M
Back to variants list

DNM1L

NM_012062.5:p.V41M

Associated Papers

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.

Nasca A et al.

Biomolecules, 2025

DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.

Wang AS et al.

Journal of Pediatric Neurology : Jpn, 2023

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."