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- source_evidence_literature type ECO_0000212 NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_assertion description "[Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_assertion evidence source_evidence_literature NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_assertion SIO_000772 21233754 NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_assertion wasDerivedFrom befree-20140225 NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_assertion wasGeneratedBy ECO_0000203 NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP334799.RAHZIrn3yJMfneGWaOUDxb2JnVdUhkqAZOFp-bRjmn1cs130_provenance.