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Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
Shah, Naisha; Hou, Ying-Chen Claire; Yu, Hung-Chun; Sainger, Rachana; Caskey, C Thomas; Venter, J Craig; Telenti, Amalio.
  • Shah N; Human Longevity Inc., San Diego, CA 92121, USA.
  • Hou YC; Human Longevity Inc., San Diego, CA 92121, USA.
  • Yu HC; Human Longevity Inc., San Diego, CA 92121, USA.
  • Sainger R; Human Longevity Inc., San Diego, CA 92121, USA.
  • Caskey CT; Baylor College of Medicine, Houston, TX 77030, USA.
  • Venter JC; Human Longevity Inc., San Diego, CA 92121, USA; J. Craig Venter Institute, La Jolla, CA 92037, USA. Electronic address: jcventer@jcvi.org.
  • Telenti A; J. Craig Venter Institute, La Jolla, CA 92037, USA. Electronic address: atelenti@jcvi.org.
Am J Hum Genet ; 102(4): 609-619, 2018 04 05.
Article en En | MEDLINE | ID: mdl-29625023
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Enfermedad Tipo de estudio: Diagnostic_studies / Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Enfermedad Tipo de estudio: Diagnostic_studies / Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2018 Tipo del documento: Article