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Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.
Mansard, Luke; Vaché, Christel; Bianchi, Julie; Baudoin, Corinne; Perthus, Isabelle; Isidor, Bertrand; Blanchet, Catherine; Baux, David; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Françoise.
Affiliation
  • Mansard L; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
  • Vaché C; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
  • Bianchi J; Institute for Neurosciences of Montpellier (INM), Univ Montpellier, Inserm, 34000 Montpellier, France.
  • Baudoin C; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
  • Perthus I; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
  • Isidor B; Department of Clinical Genetics, Reference Center for Rare Diseases, University Hospital of Clermont-Ferrand, 63000 Clermont-Ferrand, France.
  • Blanchet C; Department of Medical Genetics, CHU Nantes, 44000 Nantes, France.
  • Baux D; National Reference Centre for Inherited Sensory Diseases, Otolaryngology Department, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
  • Koenig M; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
  • Kalatzis V; Institute for Neurosciences of Montpellier (INM), Univ Montpellier, Inserm, 34000 Montpellier, France.
  • Roux AF; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, 34000 Montpellier, France.
Diagnostics (Basel) ; 12(1)2022 Jan 15.
Article in En | MEDLINE | ID: mdl-35054374
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: Diagnostics (Basel) Year: 2022 Document type: Article Affiliation country: France Country of publication: Switzerland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: Diagnostics (Basel) Year: 2022 Document type: Article Affiliation country: France Country of publication: Switzerland