Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_assertion> ?p ?o ?g. }
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- NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_assertion type Assertion NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_head.
- NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_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." NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_provenance.
- NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_assertion evidence source_evidence_literature NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_provenance.
- NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_assertion SIO_000772 12604374 NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_provenance.
- NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_assertion wasDerivedFrom befree-20140225 NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_provenance.
- NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_assertion wasGeneratedBy ECO_0000203 NP879475.RA9yV4mco7zM1jjIXhYMKsDL1L5GqdvvhNiW3VF9f0zGc130_provenance.