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- source_evidence_literature type ECO_0000212 NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_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." NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_assertion evidence source_evidence_literature NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_assertion SIO_000772 22739343 NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_assertion wasDerivedFrom befree-20150227 NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_assertion wasGeneratedBy ECO_0000203 NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP322882.RAXBo0JHy_g28p2oDbzC_yLdlB3s3y0z3i0x-6kURgH1g130_provenance.