Varaico: Literature-Extracted Genetic Variants

Gene:AP4B1
Variant:p.Q394fs
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AP4B1

NM_001253852.3:p.Q394fs

Associated Papers

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari D et al.

Brain : a Journal of 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."