Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP189227.RAhq_eFp6BTk5lGIRHUx5eRTM1afELBQc_2cgcgAmpS8s#assertion> ?p ?o ?g. }
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- assertion description "[We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of HJMD versus ectodermal dysplasia, ectrodactyly and macular dystrophy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20203473 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.