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- source_evidence_literature type ECO_0000212 NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_assertion description "[D4ST1-deficient EDS is caused by mutations in CHST14, which encodes an enzyme responsible for post-translational modification of GAG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_assertion evidence source_evidence_literature NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_assertion SIO_000772 24443026 NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_assertion wasDerivedFrom befree-20150227 NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_assertion wasGeneratedBy ECO_0000203 NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP964097.RAo7VGSjFHaibPo15WU2VhDu_3B4UpYpCeumM7_QJvqfU130_provenance.