Browsing by Author "Altimir, A"
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Translational diagnostics: an in-house pipeline to validate genetic variants in children with undiagnosed and rare diseases Pijuan Casas, Jordi; Rodríguez Sanz, Maica; Cortez, Carolina; Altimir, A; Afonso Rodriguez, Carmen Nieves; Benítez Iglesias, Raúl; do Nascimento, Anderson Thiago (2021-01-13)
Open AccessDiagnosis 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, ...