?url_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.aulast=Efthymiou&rft.au=Efthymiou%2C+Stephanie&rft.aufirst=Stephanie&rft.issn=0006-8950&rft.volume=147&rft.atitle=Novel+loss-of-function+variants+expand+ABCC9-related+intellectual+disability+and+myopathy+syndrome&rft.title=Brain&rft.issue=5&rft.pages=1822-1836&rft.date=May+2024&rft.genre=article