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A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Document Type

Journal

Author

Bonati, Maria Teresa; Verde, Federico; Hladnik, Uros; Cattelan, Paola; Campana, Luca; Castronovo, Chiara; Ticozzi, Nicola; Maderna, Luca; Colombrita, Claudia; Papa, Sergio; Banfi, Paolo; Silani, Vincenzo

Source

MOLECULAR GENETICS AND METABOLISM REPORTS; DEC 2017, 13 p14-p17, 4p.

Subject

Language

English

ISSN

22144269

Online Access

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

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