Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- befree-2016 importedOn "2016-02-19" NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion wasGeneratedBy ECO_0000203 NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion wasDerivedFrom befree-2016 NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion SIO_000772 18554279 NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion evidence source_evidence_literature NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.
- NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion description "[A heterozygous single base mutation in the human growth hormone (GH) gene (GH-1) was identified in a family presenting with isolated GH deficiency type II (IGHD II).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_provenance.