Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.

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<h4>Background</h4>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 mutations are very rare...

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Bibliographic Details
Main Authors: Umut Gerlevik, Ceren Saygı, Hakan Cangül, Aslı Kutlu, Erdal Fırat Çaralan, Yasemin Topçu, Nesrin Özören, Osman Uğur Sezerman
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0265400

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https://doi.org/10.1371/journal.pone.0265400

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