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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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Veröffentlicht in:Front Genet
Hauptverfasser: Martin, Lisa J., Pilipenko, Valentina, Benson, D. Woodrow
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336695/
https://ncbi.nlm.nih.gov/pubmed/30687393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00729
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