Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.A79fs
Back to variants list

AP4S1

NM_001128126.3:p.A79fs

Associated Papers

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.

Günay Ç et al.

Molecular Syndromology, 2025

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.

D'Amore A et al.

Annals of Clinical and Translational Neurology, 2020

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."