Related Experiment Video

Updated: Dec 25, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Genetic Diagnosis of Rare Diseases: Past and Present

Feliciano Ramos-Fuentes1, Antonio González-Meneses2, Elisabet Ars3

  • 1Departamento de Pediatría, Facultad de Medicina, Unidad de Genética Clínica, Servicio de Pediatría, CIBERER-GCV02 and Grupo DGA B20, Hospital Clínico Universitario 'Lozano Blesa', Universidad de Zaragoza, Zaragoza, Spain. framos@unizar.es.

Advances in Therapy
|April 3, 2020
PubMed

Keywords:
DiagnosisGeneticsRare diseasesX-Linked hypophosphataemic rickets

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