Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion> ?p ?o ?g. }
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- NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion type Assertion NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_head.
- NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion description "[Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder caused by heterozygous germline mutations in the exostonsin-1 (EXT1) or exostosin-2 (EXT2) genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_provenance.
- NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion evidence source_evidence_literature NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_provenance.
- NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion SIO_000772 23629877 NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_provenance.
- NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion wasDerivedFrom befree-20150227 NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_provenance.
- NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_assertion wasGeneratedBy ECO_0000203 NP388308.RAwUKEsrhJgqS3cTGLOzjMvCVrLkbyaMlTms7gd3Gsyzk130_provenance.