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- source_evidence_literature type ECO_0000212 NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion description "[We provide experimental evidence that these mutations affect normal FGFR2 splicing and document the clinical consequences, which include a mild Crouzon syndrome phenotype and reduced penetrance of craniosynostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion evidence source_evidence_literature NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion SIO_000772 25174698 NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion wasDerivedFrom befree-20150227 NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion wasGeneratedBy ECO_0000203 NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_provenance.