A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Por Patel, Nisha, Khan, Arif O., Al-Saif, Maher, Moghrabi, Walid N., AlMaarik, Balsam M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Alshidi, Tarfa, Alobeid, Eman, Alomar, Rana A., Al-Harbi, Saad, Abouelhoda, Mohamed, Khabar, Khalid S. A., Alkuraya, Fowzan S.
Publicado no Genome Biol (2017)