De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, VJournal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2019.01.013
Date:
February, 2019
File:
PDF, 1.40 MB
2019