Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_assertion> ?p ?o ?g. }
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- NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_assertion type Assertion NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_head.
- NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_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." NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_provenance.
- NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_assertion evidence source_evidence_literature NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_provenance.
- NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_assertion SIO_000772 15248152 NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_provenance.
- NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_assertion wasDerivedFrom befree-20140225 NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_provenance.
- NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_assertion wasGeneratedBy ECO_0000203 NP327079.RAr2RWM7vQCW8desOjC7SjiaylwIrRGFR2aFNmOuLEkkQ130_provenance.