Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion description "[Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion evidence source_evidence_literature NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion SIO_000772 20034074 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion wasDerivedFrom befree-2016 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion wasGeneratedBy ECO_0000203 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- befree-2016 importedOn "2016-02-19" NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.