Associated Papers
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T et al.
Hgg Advances, 2025
Two novel pathogenic variants in MED13L: one familial and one isolated case.
Carvalho LML et al.
Journal of Intellectual Disability Research : Jidr, 2021
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
Select a paper to view details