Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion> ?p ?o ?g. }
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- NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion type Assertion NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_head.
- NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion description "[This case illustrates the clinical and genetic heterogeneity of nemaline myopathy, and one phenotype of the wide spectrum of severity caused by mutations in the skeletal muscle alpha-actin (ACTA1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_provenance.
- NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion evidence source_evidence_literature NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_provenance.
- NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion SIO_000772 11166164 NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_provenance.
- NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion wasDerivedFrom befree-20140225 NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_provenance.
- NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_assertion wasGeneratedBy ECO_0000203 NP322253.RAO233NOLP4A2EcEBWDeZrhMWvc_H6aa960N3B0FrBgrs130_provenance.