Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP824113.RAMn70FSzZZ1da0AqsSBEut-FC36Ubs-qTCTzksAF6PVY#assertion> ?p ?o ?g. }
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- assertion description "[Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 16565358 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.