Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_assertion description "[We propose that these mutations are the molecular cause of the disease observed in the previously described SCKL2 family and in an additional unrelated family diagnosed with a similar form of congenital microcephaly termed Jawad syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_assertion evidence source_evidence_literature NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_assertion SIO_000772 21998596 NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_assertion wasDerivedFrom befree-20140225 NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_assertion wasGeneratedBy ECO_0000203 NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP875073.RAcOUNFeEIMzB-OSWbv9PbYUVFX43gL161fd77tpcyiM4130_provenance.