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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Schoch, Kelly; Tan, Queenie K-G; Stong, Nicholas; Deak, Kristen L; McConkie-Rosell, Allyn; McDonald, Marie T; Goldstein, David B; Jiang, Yong-Hui; Shashi, Vandana.
Affiliation
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Stong N; Institute of Genomic Medicine, Columbia University, New York, NY, USA.
  • Deak KL; Department of Pathology, Duke University Medical Center, Durham, NC, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Goldstein DB; Institute of Genomic Medicine, Columbia University, New York, NY, USA.
  • Jiang YH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. vandana.shashi@duke.edu.
Genet Med ; 22(7): 1269-1275, 2020 07.
Article in En | MEDLINE | ID: mdl-32366967
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exome / Missed Diagnosis Type of study: Diagnostic_studies / Guideline Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exome / Missed Diagnosis Type of study: Diagnostic_studies / Guideline Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States