Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_assertion> ?p ?o ?g. }
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- NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_assertion type Assertion NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_head.
- NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_assertion wasGeneratedBy ECO_0000203 NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_provenance.
- NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_assertion wasDerivedFrom befree-20150227 NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_provenance.
- NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_assertion SIO_000772 14967154 NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_provenance.
- NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_assertion evidence source_evidence_literature NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_provenance.
- NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_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." NP429047.RA2KXroIxq7-8v1ucEEQ_opvfT3XiiZwxKuTIdKUa12Zk130_provenance.