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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- assertion description "[We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable.We further propose that the diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22739343 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- BEFREE importedOn "2017-02-19" provenance.