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- source_evidence_literature type ECO_0000212 NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_assertion description "[Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_assertion evidence source_evidence_literature NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_assertion SIO_000772 7704558 NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_assertion wasDerivedFrom befree-20140225 NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_assertion wasGeneratedBy ECO_0000203 NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP848198.RA-tVjRjFV38P6L5hZf7xqoNa_imJxsiJfEzpko0dqldI130_provenance.