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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005942573> ?p ?o ?g. }

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• W2005942573 abstract "We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was absent in blood. This report expands the phenotypic spectrum of mosaic PIK3CA mutations." @default.
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• W2005942573 date "2014-06-05" @default.
• W2005942573 modified "2023-10-09" @default.
• W2005942573 title "Somatic mosaicism for the p.His1047Arg mutation in <i>PIK3CA</i> in a girl with mesenteric lipomatosis" @default.
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• W2005942573 doi "https://doi.org/10.1002/ajmg.a.36622" @default.
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