Associated Papers
Multifocal disease progression and subsequent intervention in patients with actin alpha-2 variants: A single-center experience.
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The Journal of Thoracic and Cardiovascular Surgery, 2024
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
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Sources of discordance among germ-line variant classifications in ClinVar.
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Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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