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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Nazlamova, Liliya; Thomas, N Simon; Cheung, Man-Kim; Legebeke, Jelmer; Lord, Jenny; Pengelly, Reuben J; Tapper, William J; Wheway, Gabrielle.
Afiliação
  • Nazlamova L; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Thomas NS; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Cheung MK; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
  • Legebeke J; Centre for Research in Biosciences, University of the West of England, Bristol, Bristol, UK.
  • Lord J; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Pengelly RJ; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Tapper WJ; University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Wheway G; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
Hum Genet ; 140(4): 593-607, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33095315
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico por Imagem / Proteínas do Olho / Sistemas CRISPR-Cas / Ciliopatias Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico por Imagem / Proteínas do Olho / Sistemas CRISPR-Cas / Ciliopatias Idioma: En Ano de publicação: 2021 Tipo de documento: Article