Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_assertion> ?p ?o ?g. }
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- NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_assertion type Assertion NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_head.
- NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_assertion wasGeneratedBy ECO_0000203 NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_provenance.
- NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_assertion wasDerivedFrom befree-20150227 NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_provenance.
- NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_assertion SIO_000772 18554279 NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_provenance.
- NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_assertion evidence source_evidence_literature NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_provenance.
- NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_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." NP486239.RAtHwWr1swbn_BAWEFKfk9rUHKQKAScJwkJPilFgvaHqM130_provenance.