Associated Papers
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T et al.
Hgg Advances, 2025
MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.
Hamada N et al.
Journal of Neurochemistry, 2023
Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z et al.
Italian Journal of Pediatrics, 2020
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
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