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Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic variants in either CCM1 (KRIT1), CCM2 or CCM3...

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Detalles Bibliográficos
Autores principales:	Much, Christiane D., Schwefel, Konrad, Skowronek, Dariush, Shoubash, Loay, von Podewils, Felix, Elbracht, Miriam, Spiegler, Stefanie, Kurth, Ingo, Flöel, Agnes, Schroeder, Henry W. S., Felbor, Ute, Rath, Matthias
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879547/ https://www.ncbi.nlm.nih.gov/pubmed/31824402 http://dx.doi.org/10.3389/fneur.2019.01219

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