Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_assertion description "[Germline 918 ATG-->ACG RET mutation was present in three unrelated MEN 2B individuals and corresponding somatic mutation in one individual with SMTC; 634 TGC-->TTC RET mutation was detected in two related patients in an MEN 2A family and the 634 TGC-->TAC RET mutation was detected in 12 related individuals from a second MEN 2A family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_assertion evidence source_evidence_literature NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_assertion SIO_000772 12604374 NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_assertion wasDerivedFrom befree-20140225 NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_assertion wasGeneratedBy ECO_0000203 NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP308471.RAmYBDPCZErcf_vEFJFHar9vFIm6qs-hkMXgzGIZ__-KM130_provenance.