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10.1038/ejhg.2014.29

http://scihub22266oqcxt.onion/10.1038/ejhg.2014.29
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C4135420!4135420 !24569608
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suck abstract from ncbi


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pmid24569608       Eur+J+Hum+Genet 2014 ; 22 (9 ):
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  • Clinical utility gene card for: Phosphomannose isomerase deficiency #MMPMID24569608
  • Jaeken J ; Lefeber D ; Matthijs G
  • Eur J Hum Genet 2014[Sep]; 22 (9 ): PMID24569608 show ga
  • ä
  • |*Genetic Testing [MESH]
  • |Congenital Disorders of Glycosylation/diagnosis/*genetics [MESH]
  • |Humans [MESH]
  • |Mannose-6-Phosphate Isomerase/*deficiency/genetics [MESH]


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