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A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype |
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Titel: |
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype |
Auteur: |
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 |
Verschenen in: |
Molecular genetics and metabolism reports |
Paginering: |
Jaargang 13 (2017) nr. C pagina's 4 p. |
Jaar: |
2017 |
Inhoud: |
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Uitgever: |
The Authors |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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