Varaico: Literature-Extracted Genetic Variants

Gene:AP1S2
Variant:p.L80L
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AP1S2

NM_001272071.2:p.L80L

Associated Papers

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).

Aspromonte MC et al.

Human Genetics, 2025

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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."