Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion evidence source_evidence_literature NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion SIO_000772 14614393 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion wasDerivedFrom befree-2016 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion wasGeneratedBy ECO_0000203 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- befree-2016 importedOn "2016-02-19" NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.