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Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Farach, Laura S; Northrup, Hope; Nellist, Mark; van Unen, Leontine; Hillman, Paul; Klonowska, Katarzyna; Ekong, Rosemary; Crino, Peter B; Au, Kit Sing.
Afiliação
  • Farach LS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA. Electronic address: laura.s.farach@uth.tmc.edu.
  • Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.
  • Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
  • van Unen L; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Hillman P; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.
  • Klonowska K; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Ekong R; Research Department of Genetics, Evolution and Environment, Darwin Building, University College London, London, United Kingdom.
  • Crino PB; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.
  • Au KS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.
Gene ; 877: 147566, 2023 Aug 15.
Article em En | MEDLINE | ID: mdl-37311496
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Supressoras de Tumor Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Supressoras de Tumor Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article