Associated Papers
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T et al.
Hgg Advances, 2025
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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
Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis.
Sardar S et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
Jiménez-Romero S et al.
Molecular Syndromology, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R et al.
European Journal of Medical Genetics, 2017
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A et al.
Pediatric Research, 2016
Redefining the MED13L syndrome.
Adegbola A et al.
European Journal of Human Genetics : Ejhg, 2015
Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C et al.
Nature, 2014
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