Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_assertion description "[Analysis of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous missense mutations in nearly 6% of this population, including mutations in isolated AVSD and AVSD associated with heterotaxy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_assertion evidence source_evidence_literature NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_assertion SIO_000772 12632326 NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_assertion wasDerivedFrom befree-2016 NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_assertion wasGeneratedBy ECO_0000203 NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.
- befree-2016 importedOn "2016-02-19" NP386785.RANYusrd7Zzxb5RqaL_GSf5ySfPIVWp0UBw6hz0O0v9IU130_provenance.