Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1206101.RALFvsYVmDUo8Ot4ep7trPIqNtMyyImrw7ErCKNgPJjks#assertion> ?p ?o ?g. }
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- assertion description "[The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 16740914 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.