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Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown. Analysis of whole exome sequencing (WES) in left sided CVM case and trio series has identified large numbers of potential...

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Detalles Bibliográficos
Autores principales:	Martin, Lisa J., Pilipenko, Valentina, Benson, D. Woodrow
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336695/ https://www.ncbi.nlm.nih.gov/pubmed/30687393 http://dx.doi.org/10.3389/fgene.2018.00729

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