Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_assertion> ?p ?o ?g. }
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- NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_assertion type Assertion NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_head.
- NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_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." NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_provenance.
- NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_assertion evidence source_evidence_literature NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_provenance.
- NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_assertion SIO_000772 15248152 NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_provenance.
- NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_assertion wasDerivedFrom befree-2016 NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_provenance.
- NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_assertion wasGeneratedBy ECO_0000203 NP451633.RAqnqnSKCkmt5LCTfA36ysIRqkw1XVkj2KCia01Hqd_cE130_provenance.