Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_assertion wasGeneratedBy ECO_0000218 NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_assertion wasDerivedFrom uniprot-2016 NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_assertion SIO_000772 8325895 NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_assertion evidence source_evidence_curated NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.
- NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_assertion description "[This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8853.RAC5_M8ivu0IkUu5EmYjU794TI8VXS0dPYVFR4EqL2DN8130_provenance.