First description of a bone marrow failure syndrome in Spain caused by compound heterozygous truncating mutations in ERCC6L2

Perla Bandini,Nina Borras,Laura Martin-Fernandez, Eugenia Fernandez-Mellid, Paula Melero-Valentin,Natalia Comes,Lorena Ramirez,Patricia Cadahia Fernandez, Matilde Rodriguez Ruiz,Manuel Mateo Perez Encinas,Francisco Vidal,Irene Corrales

EUROPEAN JOURNAL OF HUMAN GENETICS(2023)

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