Published in
Elsevier, Molecular Genetics and Metabolism Reports, (13), p. 14-17, 2017
DOI: 10.1016/j.ymgmr.2017.07.007
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A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
Journal article published in 2017 by
Maria Teresa Bonati,
Federico Verde,
Uros Hladnik 
,
Paola Cattelan,
Luca Campana,
Chiara Castronovo,
Nicola Ticozzi ,
Luca Maderna,
Claudia Colombrita,
Sergio Papa,
Paolo Banfi ,
Vincenzo Silani
,
Paola Cattelan,
Luca Campana,
Chiara Castronovo,
Nicola Ticozzi ,
Luca Maderna,
Claudia Colombrita,
Sergio Papa,
Paolo Banfi ,
Vincenzo Silani
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