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- source_evidence_literature type ECO_0000212 NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_assertion description "[fibroblasts from Ehlers-Danlos syndrome patients, with mutations in COL5A1 and COL3A1, synthesize aberrant types V and III collagen and show defective organization of these proteins into the extracellular matrix and reduction of alpha (2) beta (1) integrin ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_assertion evidence source_evidence_literature NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_assertion SIO_000772 14970208 NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_assertion wasDerivedFrom lhgdn-20090331 NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_assertion wasGeneratedBy ECO_0000203 NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP203599.RABKa33ehOWzrWSeInZiTB12t1ep-PILLHkA1k0LXQImM130_provenance.