Varaico: Literature-Extracted Genetic Variants

Gene:AP4B1
Variant:p.R107Q
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AP4B1

NM_001253852.3:p.R107Q

Associated Papers

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

Sabbagh Q et al.

Journal of Neurology, 2025

Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.

Gadbery JE et al.

Protein Science : a Publication of the Protein Society, 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."