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Open AccessDevelopment of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing
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Open AccessA family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
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Open AccessSomatic NLRP3 mosaicism in Muckle-Wells syndrome
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Open AccessDescription of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism
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Open AccessNOD2 mosaicism in Blau syndrome
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Open AccessClinical and genetic features of Spanish patients with Mevalonate kinase deficiency
