Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP634052.RACO13KwTEvHaxMrCbju_QCeSCGT8UI6pzTGHEVoIWBaA#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
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- assertion SIO_000772 21236492 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[To describe a novel laminin ?-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.