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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Eye Diseases, Hereditary, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, eye disorder, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, intellectual disability, metabolic disease, nervous system disorder, neurodevelopmental disorder, psychiatric disorder, skin disorder, skin pigmentation disorderNot yet recruitingNot stated2026-02-10NCT07400913