Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.R240H
Back to variants list

COQ4

NM_016035.5:p.R240H

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

Clinical features and genotype in COQ4 associated hereditary spastic paraplegia: a case report and a literature reanalysis.

Yu Z et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.

Schierbaum L et al.

Movement Disorders Clinical Practice, 2024

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

Lin X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."