Konu "p.Arg484Gln" için WoS İndeksli Yayınlar Koleksiyonu listeleme
Toplam kayıt 1, listelenen: 1-1
-
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
(Public Library of Science, 2022)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 PNHassociated FLNA mutations are female ...