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- source_evidence_literature type ECO_0000212 NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- befree-2016 importedOn "2016-02-19" NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_assertion wasGeneratedBy ECO_0000203 NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_assertion wasDerivedFrom befree-2016 NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_assertion SIO_000772 19197535 NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_assertion evidence source_evidence_literature NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.
- NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_assertion description "[The frequency of the 2G allele in these subjects (46.3%) was greater than in the controls (42.0%), but less than in non-itchy dominant dystrophic EB (52.2%) or recessive dystrophic EB (62.0%), indicating that variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719010.RAvhtAmNZbQSR7dSQIX9TWrByyr5t7NBughCyOpT90-04130_provenance.