Varaico: Literature-Extracted Genetic Variants

Gene:AP5Z1
Variant:p.A205A
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AP5Z1

NM_014855.3:p.A205A

Associated Papers

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

Papoff FMA et al.

Neuropediatrics, 2024

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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."