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- source_evidence_literature type ECO_0000212 NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_assertion description "[Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_assertion evidence source_evidence_literature NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_assertion SIO_000772 22634226 NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_assertion wasDerivedFrom befree-2016 NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_assertion wasGeneratedBy ECO_0000203 NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.
- befree-2016 importedOn "2016-02-19" NP985266.RA0hcZ6TmgXXh2c-wp2Qw2udtlSXFl_5gCIEWHncRP49w130_provenance.