Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228418.RAo5q3wQjoXvJpHOzkBMpGgcvqYxT8IVCyQ3J9-5U1Cbk#assertion> ?p ?o ?g. }
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- assertion description "[The cysteine to tyrosine substitution in the NC1 domain of the alpha5 (IV) collagen chain in this family leads to a mild form of Alport syndrome, including absence of extra-renal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17277342 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.