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Arts syndrome
Orphanet Report Series Rare Diseases Collection
Mackenzie's Mission Gene & Condition List
WO 2015/048577 A2 April 2015 (02.04.2015) W P O P C T
Non-Syndromic Inherited Neuropathies
Expanding the Phenotype of PRPS1 Syndromes in Females
List of Disorders-Διευρυμενοσ Ελεγχοσ Φορεων
Mackenzie's Mission Gene & Condition List
The Genetic Nomenclature of Recessive Cerebellar Ataxias
Recessive Gene List V2.0
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