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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.
Kerr, Shona M; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymski, Joseph J; van Hout, Cristopher V; Tzoneva, Gannie; Shuldiner, Alan R; Wilson, James F; Miedzybrodzka, Zosia.
Affiliation
  • Kerr SM; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.
  • Cowan E; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.
  • Klaric L; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.
  • Bell C; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.
  • O'Sullivan D; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.
  • Buchanan D; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.
  • Grzymski JJ; Center for Genomic Medicine, Desert Research Institute, Reno, NV, USA.
  • van Hout CV; Renown Health, Reno, NV, USA.
  • Tzoneva G; Regeneron Genetics Center, Tarrytown, NY, USA.
  • Shuldiner AR; Laboratorio Internacional de Investigatión sobre el Genoma Humano, Campus Juriquilla de la Universidad Nacional Autónoma de México, Querétaro, Querétaro, 76230, México.
  • Wilson JF; Regeneron Genetics Center, Tarrytown, NY, USA.
  • Miedzybrodzka Z; Regeneron Genetics Center, Tarrytown, NY, USA.
Eur J Hum Genet ; 31(5): 588-595, 2023 05.
Article in En | MEDLINE | ID: mdl-36927983
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Breast Neoplasms Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Breast Neoplasms Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Reino Unido