Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.R145C
Back to variants list

COQ4

NM_016035.5:p.R145C

Associated Papers

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

Schierbaum L et al.

Movement Disorders Clinical Practice, 2024

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

Wei Q et al.

Cns Neuroscience & Therapeutics, 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."