Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.Q721*
Back to variants list

DNM1L

NM_012062.5:p.Q721*

Associated Papers

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.

Zhang Z et al.

Bmc Pediatrics, 2025

Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.

Manting X et al.

Frontiers in Pediatrics, 2025

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

Zhang Z et al.

Bmc Pediatrics, 2024

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."