Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_assertion description "[Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_assertion evidence source_evidence_literature NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_assertion SIO_000772 19855393 NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_assertion wasDerivedFrom befree-20140225 NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_assertion wasGeneratedBy ECO_0000203 NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP355017.RACNL-b2yJ5SQPSJa7wRzjtZruSA5bl39QAF7gSg284R4130_provenance.