Fig. 2

Mapping of theMED12Llocus. a Genomic position of MED12L variants identified in our series. Upper panel represents single-nucleotide variants. Lower panel represents copy-number variants. b Localization of predicted domains of MED12L protein.

Mapping of theMED12Llocus. a Genomic position of MED12L variants identified in our series. Upper panel represents single-nucleotide variants. Lower panel represents copy-number variants. b Localization of predicted domains of MED12L protein.