Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion> ?p ?o ?g. }
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- NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion type Assertion NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_head.
- NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion wasGeneratedBy ECO_0000203 NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_provenance.
- NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion wasDerivedFrom befree-20140225 NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_provenance.
- NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion SIO_000772 14967154 NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_provenance.
- NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion evidence source_evidence_literature NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_provenance.
- NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP777685.RA7hcRTn4Tt-GWkKdbmAAsSi3FEiMX8L_iAuPZedY6CGU130_provenance.