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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP4B1

Variant:p.D157Splc

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AP4B1

NM_001253852.3:p.D157Splc

hg38:chr1:113901385 T>G

Associated Papers

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

Sabbagh Q et al.

Journal of Neurology, 2025

39821477 (PubMed )

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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."