Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion> ?p ?o ?g. }
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- NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion type Assertion NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_head.
- NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion wasGeneratedBy ECO_0000203 NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_provenance.
- NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion wasDerivedFrom befree-20150227 NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_provenance.
- NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion SIO_000772 21533187 NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_provenance.
- NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion evidence source_evidence_literature NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_provenance.
- NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_assertion description "[We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a 'second hit,' that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP660369.RALvC8LhC4w5C4WqfljnZ4gu-kSNK8IzjAzRdGymD7yr4130_provenance.