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WES (Whole Exome Sequencing) diagnostic revealed the absence of SRY gene in a patient with a 47,XXY karyotype and a female phenotype

Sandra Garcia-Herrero,Alba Velo, Gemma Cartagena,Marina Martinez-Matilla, Jesus Ferre-Fernandez, Maria Berbel,Rocio Garcia-Jimenez, Iryna Boyko,Eva Barroso, Daniel Sanchez-Valero, Carmen Fernandez-Vizcaino,Cristian Perez-Garcia, Raissa Dandalo, Javier Garcia Planells

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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