Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.L298P
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AP4M1

NM_004722.4:p.L298P

Associated Papers

Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.

Agianda HAP et al.

Annals of Clinical and Translational Neurology, 2026

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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."