Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion> ?p ?o ?g. }
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- NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion type Assertion NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_head.
- NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion description "[This familial case has the characteristic features of myosclerosis myopathy and carries a homozygous COL6A2 mutation responsible for a peculiar pattern of collagen VI defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_provenance.
- NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion evidence source_evidence_literature NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_provenance.
- NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion SIO_000772 18852439 NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_provenance.
- NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion wasDerivedFrom befree-20150227 NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_provenance.
- NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_assertion wasGeneratedBy ECO_0000203 NP320361.RAI_eDclZuMbk-awNmrBXjejfkBxQc72o5L48eGsA1xdA130_provenance.