Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.I80fs
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AP4S1

NM_001128126.3:p.I80fs

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

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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."