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http://purl.uniprot.org/citations/12717436http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12717436http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12717436http://www.w3.org/2000/01/rdf-schema#comment"We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations in PTPN11 and that somatic mutations in PTPN11 account for 34% of non-syndromic JMML. Furthermore, we found mutations in PTPN11 in a small percentage of individuals with myelodysplastic syndrome (MDS) and de novo acute myeloid leukemia (AML). Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.org/dc/terms/identifier"doi:10.1038/ng1156"xsd:string
http://purl.uniprot.org/citations/12717436http://purl.org/dc/terms/identifier"doi:10.1038/ng1156"xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Niemeyer C.M."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Niemeyer C.M."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Song X."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Song X."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Tartaglia M."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Tartaglia M."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Jung A."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Jung A."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Gelb B.D."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Gelb B.D."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Licht J.D."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Licht J.D."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Buechner J."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Buechner J."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Fragale A."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Fragale A."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Haehlen K."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Haehlen K."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Hasle H."xsd:string
http://purl.uniprot.org/citations/12717436http://purl.uniprot.org/core/author"Hasle H."xsd:string