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5 results on '"Traschutz, A."'

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1. GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

3. The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature

4. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14

5. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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