Matches in Nanopublications for { ?s ?p "[Over 300 mutations have been identified in the gene encoding PAH that result in a deficient enzyme activity and lead to the disorders hyperphenylalaninaemia and phenylketonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Over 300 mutations have been identified in the gene encoding PAH that result in a deficient enzyme activity and lead to the disorders hyperphenylalaninaemia and phenylketonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_assertion description "[Over 300 mutations have been identified in the gene encoding PAH that result in a deficient enzyme activity and lead to the disorders hyperphenylalaninaemia and phenylketonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294585.RAKRN-Wa6DPtg_HaDnRFIeGrWlTdAkR_1s_8hG_bp8q6A130_provenance.