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- source_evidence_literature type ECO_0000212 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion description "[We performed mutational analysis on 164 infants with isolated, single-suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion evidence source_evidence_literature NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion SIO_000772 17343269 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion wasDerivedFrom gad-20150221 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion wasGeneratedBy ECO_0000203 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- gad-20150221 importedOn "2015-02-21" NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.