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A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
Nicolaou, Paschalis; Tanteles, George A; Votsi, Christina; Zamba-Papanicolaou, Eleni; Papacostas, Savvas S; Christodoulou, Kyproula; Christou, Yiolanda-Panayiota.
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  • Nicolaou P; Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Tanteles GA; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Votsi C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Zamba-Papanicolaou E; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Papacostas SS; Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Christodoulou K; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Christou YP; Department of Neuroepidemiology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Front Genet ; 12: 746101, 2021.
Article en En | MEDLINE | ID: mdl-34868216
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Genet Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Genet Año: 2021 Tipo del documento: Article