Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4434.RAO8MZGGN2IxQPAGXN1hTqRncI4D4trkvsR8NlTmrH2Fw#assertion> ?p ?o ?g. }
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- assertion description "[Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18024811 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.