Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_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." NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_assertion evidence source_evidence_literature NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_assertion SIO_000772 12632326 NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_assertion wasDerivedFrom befree-20150227 NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_assertion wasGeneratedBy ECO_0000203 NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP941702.RAAuMr2CDYvHRN5zaisz8q0bKwkl2uQdFFPItB5QgA-UU130_provenance.