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- source_evidence_literature type ECO_0000212 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion description "[Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion evidence source_evidence_literature NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion SIO_000772 15248100 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion wasDerivedFrom befree-2016 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion wasGeneratedBy ECO_0000203 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- befree-2016 importedOn "2016-02-19" NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.