Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_assertion> ?p ?o ?g. }
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- NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_assertion type Assertion NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_head.
- NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_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." NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_provenance.
- NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_assertion evidence source_evidence_literature NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_provenance.
- NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_assertion SIO_000772 15248152 NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_provenance.
- NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_assertion wasDerivedFrom befree-20150227 NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_provenance.
- NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_assertion wasGeneratedBy ECO_0000203 NP221069.RAgY8Ste0QdSMaXIsdezrEgN2n-Dm2_19KPkGPoJIi1ys130_provenance.