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A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features
Download from doi.orgRFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
UploadAdult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
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