Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_assertion> ?p ?o ?g. }
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- NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_assertion type Assertion NP746831.RAX0382o5pIzdOrV0-XKQ214ckBfPtMc5vbqPZ79GUPV4130_head.
- 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.