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- source_evidence_literature type ECO_0000212 NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_assertion description "[Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_assertion evidence source_evidence_literature NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_assertion SIO_000772 21858451 NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_assertion wasDerivedFrom befree-20150227 NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_assertion wasGeneratedBy ECO_0000203 NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP395927.RAHPpFIsHmrqaJmk4_mt34dRb55rql_R0OeBOXbh0qCuI130_provenance.