Browsing Articles publicats (IRBLleida) by Subject "Germline variant"

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    • Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma 

      Mellid, Sara; Coloma, Javier; Calsina, Bruna; Monteagudo, María; Roldán Romero, Juan M.; Santos, María; Leandro García, Luis J.; Lanillos, Javier; Martínez Montes, Ángel M.; Rodríguez-Antona, Cristina; Montero Conde, Cristina; Martínez López, Joaquín; Ayala, Rosa; Matias-Guiu, Xavier; Robledo, Mercedes; Cascón, Alberto (MDPI, 2020)
      Over the past few years, next generation technologies have been applied to unravel the genetics of rare inherited diseases, facilitating the discovery of new susceptibility genes. We recently found germline DNMT3A ...