Varaico: Literature-Extracted Genetic Variants

Gene:AP1S1
Variant:p.R86*
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AP1S1

NM_001283.5:p.R86*

Associated Papers

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Cavalli A et al.

Journal of Clinical Medicine, 2025

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