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Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene

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Description scientific article published on 27 March 2015
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author: Carlos Araújo  Dezso David  Maristella Maggi 

Publication date March 27, 2015
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