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

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 mutations are very rare. Fetal viability o...

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Detalles Bibliográficos
Autores principales: Gerlevik, Umut, Saygı, Ceren, Cangül, Hakan, Kutlu, Aslı, Çaralan, Erdal Fırat, Topçu, Yasemin, Özören, Nesrin, Sezerman, Osman Uğur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9132340/
https://www.ncbi.nlm.nih.gov/pubmed/35613087
http://dx.doi.org/10.1371/journal.pone.0265400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9132340/
https://www.ncbi.nlm.nih.gov/pubmed/35613087
http://dx.doi.org/10.1371/journal.pone.0265400

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