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Description

PMID: 31024065 7 Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

the shRNA was transfected into cells using the lipofectamine method described above

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Furthermore, flies harboring a global null mutation of Ube3a exhibited significant circadian deficits, supporting the notion that Ube3a is an integral component of the Drosophila circadian clock (Wu et al., 2008)