Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_assertion type Assertion NP401477.RA9YSEeF6myfWwoAh86XIhayTCmFtA6m9SLh7nEH-KSYM130_head.
- 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.