Kurum Yazarı "Çaralan, Erdal Fırat" PubMed İndeksli Yayınlar Koleksiyonu İçin Listeleme
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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
Gerlevik, Umut; Saygı, Ceren; Cangül, Hakan; Kutlu, Aslı; Çaralan, Erdal Fırat; Topçu, Yasemin; Özören, Nesrin; Sezerman, Osman Uğur (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 ...