Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion> ?p ?o ?g. }
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- NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion type Assertion NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_head.
- NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion description "[Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_provenance.
- NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion evidence source_evidence_literature NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_provenance.
- NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion SIO_000772 15248152 NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_provenance.
- NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion wasDerivedFrom befree-20150227 NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_provenance.
- NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_assertion wasGeneratedBy ECO_0000203 NP660393.RALBG8yxW8WMDK42-VdFMllWHadbR_6n9Yntk7nKaNFys130_provenance.