Varaico: Literature-Extracted Genetic Variants

Gene:AP5Z1
Variant:p.T167N
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AP5Z1

NM_014855.3:p.T167N

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG48

Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature.

Papoff FMA et al.

Neuropediatrics, 2024

Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report.

Jin P et al.

Frontiers in Neurology, 2023

[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].

Maruta K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Hirst J et al.

Neurology. Genetics, 2016

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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."