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- source_evidence_literature type ECO_0000212 NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_assertion description "[Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_assertion evidence source_evidence_literature NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_assertion SIO_000772 23378035 NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_assertion wasDerivedFrom befree-2016 NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_assertion wasGeneratedBy ECO_0000203 NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.
- befree-2016 importedOn "2016-02-19" NP1049789.RA05R391_-dIT3hdgMRzdOxtmCLtPIapiCzeP3VmVod-M130_provenance.