Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion> ?p ?o ?g. }
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- NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion type Assertion NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_head.
- NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion description "[Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_provenance.
- NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion evidence source_evidence_literature NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_provenance.
- NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion SIO_000772 7581378 NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_provenance.
- NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion wasDerivedFrom befree-20140225 NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_provenance.
- NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_assertion wasGeneratedBy ECO_0000203 NP453469.RAIdS_qVCSWxxi-sJp7pyegPXd2yRkydeMtYNVU2lltOk130_provenance.