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- source_evidence_literature type ECO_0000212 NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_assertion wasGeneratedBy ECO_0000203 NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_assertion wasDerivedFrom befree-20150227 NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_assertion SIO_000772 16237566 NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_assertion evidence source_evidence_literature NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.
- NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_assertion description "[Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and facial dysmorphism is caused by defects in the SMARCAL1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP897251.RAXfHF_cFV0rymLiHwkOfr695t5rjiiOyDW6rgeG3EKPk130_provenance.