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- source_evidence_literature type ECO_0000212 NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_assertion description "[A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_assertion evidence source_evidence_literature NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_assertion SIO_000772 21426321 NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_assertion wasDerivedFrom befree-20140225 NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_assertion wasGeneratedBy ECO_0000203 NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP567362.RA3wR3H2_o3tfQJktiuHYLSBnwP3Dbzdi4-NJHfzNzLxk130_provenance.