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Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature
Dusanic, Maja, Dekomien, Gabriele, Lücke, Thomas, Vorgerd, Matthias, Weis, Joachim, Epplen, Joerg T., Köhler, Cornelia, Hoffjan, SabineVolume:
9
Year:
2018
Language:
english
Journal:
Molecular Syndromology
DOI:
10.1159/000485881
File:
PDF, 456 KB
english, 2018