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- source_evidence_literature type ECO_0000212 NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_assertion wasGeneratedBy ECO_0000203 NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_assertion wasDerivedFrom befree-20140225 NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_assertion SIO_000772 19876931 NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_assertion evidence source_evidence_literature NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_assertion description "[At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.
- befree-20140225 importedOn "2014-02-25" NP462098.RAehEGfTa8nsy1Wb97NgHeaKv9sX1hhv4agr29Y5NK478130_provenance.