HIGHLIGHTS
- who: Umut Gerlevik and collaborators from the Istanbul, Turkey, Department of Molecular Biology and, Bou011fazicu0327i, Istanbul have published the research: Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia, in the Journal: PLOS ONE of 18/06/2021
- what: It is the primary reason of drugresistant epilepsy, and its main feature is seizures. The authors report on the transmission of PNH from a clinically asymptomatic mother to two sons, in a fully penetrant classical X-linked dominant mode. When the authors focus on the . . .
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