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- source_evidence_literature type ECO_0000212 NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_assertion description "[Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_assertion evidence source_evidence_literature NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_assertion SIO_000772 9036918 NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_assertion wasDerivedFrom befree-2016 NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_assertion wasGeneratedBy ECO_0000203 NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.
- befree-2016 importedOn "2016-02-19" NP1367548.RAoCCf92YWJrTmIM1tmGEzyr3vlx2IkHw48YFYSXbhS3c130_provenance.