A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifesta...
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
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Full title
Author / Creator
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
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Scope and Contents
Contents
The purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with external features, the RASopathies and Marfan syndrome (MFS), using biobank data.
This study uses exome sequencing and corresponding phenotypic data from Mount Sinai’s BioMe (n = 32,344) and the United Kingdo...
Alternative Titles
Full title
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7796917
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7796917
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-020-00973-2
