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Gerstmann–Sträussler–Scheinker disease with the PRNP P102L mutation and valine at codon 129

Mendelian DisorderGerstmann–sträussler–scheinker DiseaseDisease MechanismGenetic DisorderMedicineGeneticsPathogenesisPathologyMedical GeneticsDisease Gene IdentificationPrnp P102l MutationMolecular DiagnosticsCodon 129Clinical Genetics