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Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
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