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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

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Description scientific article published on 04 September 2013
Author/s

author: Lisbeth Birk Møller  Anne De Paepe  Arvid Heiberg  João Silva 

Publication date September 4, 2013
Language English
Country of origin
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https://www.nature.com/articles/ejhg2013191.pdf

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