HIGHLIGHTS
- who: Author(s et al. from the Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands have published the Article: The Phenotypic Continuum of ATPLA3-Related Disorders, in the Journal: (JOURNAL)
- what: CADD scores of pathogenic and likely pathogenic variants were significantly higher and variants clustered within six regions of constraint. __NEWPAGE__Conclusions the study shows that looking for combination of paroxysmal events hyperkinesia neuropsychiatric symptoms and cognitive impairment as well as evaluating CADD score and variant location can help identify an ATP1A3-related condition rather than applying diagnostic criteria alone. The authors aim to describe the . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.