Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
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DOI: 10.1371/journal.pone.0265400
Abstract: Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNH-associated FLNA mutations are female whereas liveborn males with FLNA… read more here.
Keywords: arg484gln variant; nodular heterotopia; novel arg484gln; variant ... See more keywords