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pro vyhledávání: '"Liedewei Van de Vondel"'
Autor:
Jordi, Pijuan, María, Rodríguez-Sanz, Daniel, Natera-de Benito, Carlos, Ortez, Arola, Altimir, Mireia, Osuna-López, Montserrat, Roura, Maddi, Ugalde, Liedewei, Van de Vondel, Judith, Reina-Castillón, Carme, Fons, Raúl, Benítez, Andrés, Nascimento, Janet, Hoenicka, Francesc, Palau
Publikováno v:
The Journal of molecular diagnostics : JMD. 23(1)
Diagnosis is essential for the management and treatment of patients with rare diseases. In a group of patients, the genetic study identifies variants of uncertain significance or inconsistent with the phenotype; therefore, it is urgent to develop nov