Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion> ?p ?o ?g. }
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- NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion type Assertion NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_head.
- NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion description "[a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_provenance.
- NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion evidence source_evidence_literature NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_provenance.
- NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion SIO_000772 12840783 NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_provenance.
- NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion wasDerivedFrom lhgdn-20090331 NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_provenance.
- NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_assertion wasGeneratedBy ECO_0000203 NP208220.RAi8_Qa6t2CidqsyRQpgI6jIFV46WRr6BCFMIqCmPhWLo130_provenance.