HIGHLIGHTS
- who: Benyan Luo and Qing Ke from the University of Malaya, Malaysia have published the paper: ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis, in the Journal: (JOURNAL)
- what: The authors reported cases of two RDP patients from a family carrying a novel ATP1A3 mutation.
- how: The variant found in the proband was tested in the subjected mother and asymptomatic father using the same method (Yu et_al 2021). frontiersin.org 10.3389/fnagi.2022.933893 Computational prediction of variant pathogenicity variant was not found in Pubmed HGMD . . .
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