Associated Papers
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
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
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M et al.
Molecular Autism, 2015
25969726 (PubMed )
Supplement: 13229_2015_17_MOESM2_ESM.xlsx › Table_S2
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