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- source_evidence_literature type ECO_0000212 NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_assertion description "[Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_assertion evidence source_evidence_literature NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_assertion SIO_000772 8024616 NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_assertion wasDerivedFrom befree-20150227 NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_assertion wasGeneratedBy ECO_0000203 NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP421443.RAfnScG0zqSPKUy4W-b5zMa7mD-jXb5_DsjgHwTNtN8kg130_provenance.