Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.G144D
Back to variants list

ACBD5

NM_145698.5:p.G144D

Associated Papers

The neurological pathology of peroxisomal ACBD5 deficiency - lessons from patients and mouse models.

Dawes ML et al.

Frontiers in Molecular Neuroscience, 2025

Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report.

Pappaterra-Rodriguez MC et al.

Cureus, 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."