Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion> ?p ?o ?g. }
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- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion type Assertion NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_head.
- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_provenance.
- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion evidence source_evidence_literature NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_provenance.
- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion SIO_000772 23345197 NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_provenance.
- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion wasDerivedFrom befree-20150227 NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_provenance.
- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion wasGeneratedBy ECO_0000203 NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_provenance.