Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_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." NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_assertion evidence source_evidence_literature NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_assertion SIO_000772 15248152 NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_assertion wasDerivedFrom befree-20140225 NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_assertion wasGeneratedBy ECO_0000203 NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_provenance.