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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo, Joseph T; Glinton, Kevin E; Liu, Ning; Xiao, Jing; Yang, Yaping; Reid Sutton, V; Elsea, Sarah H.
Affiliation
  • Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Glinton KE; Baylor Genetics, Houston, TX, USA.
  • Liu N; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
  • Xiao J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Reid Sutton V; Baylor Genetics, Houston, TX, USA.
  • Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Genet Med ; 22(9): 1560-1566, 2020 09.
Article in En | MEDLINE | ID: mdl-32439973
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Exome Type of study: Diagnostic_studies / Guideline / Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Exome Type of study: Diagnostic_studies / Guideline / Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States