Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP789424.RA6b7fEogD4EvKxgBOtPtYwFBzDPmJvvM1qc9iFlRglmg#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23227268 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.