Orphanet: Search by disease/gene
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Funded by an IRDiRC member = Member of a ERN =

Research projects

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)
Hospital Sant Joan de Déu Barcelona
Instituto Pediátrico de Enfermedades Raras

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular

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