Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP989578.RApNreRsWoyVwXHlPb8fUKe-sFVvt9nsw6HT02-2aScdw#assertion> ?p ?o ?g. }
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- assertion description "[Two distinct mutations, a 5-bp deletion and a complex mutation from the same region in exon 6 of this gene, have been reported so far and are associated with autosomal dominant atrophic macular degeneration (adMD/STGD3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15028284 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.