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    CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report

    CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report by Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G. Stefanou, Carolina Sismani

    Published 2023-12-01
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