Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.Q46_C47Splc
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AP4S1

NM_001128126.3:p.Q46_C47Splc

Associated Papers

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

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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."