Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion> ?p ?o ?g. }
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- NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_assertion type Assertion NP676673.RAmTRxT9uAIOngImUljQhT76SJ9wYJcw2vs_9aHxd6kDA130_head.
- 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.