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Paper Details

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
Eur J Hum Genet
15
2013
FHL, IL-1, PRF1, R225W, ataxia, cytopenia, dysarthria, familial hemophagocytic lymphohistiocytosis, gastroenteritis, girl, girls, hematopathology, immune-mediated neurodegeneration, immunodeficiency, interleukin-1 beta, neurodegeneration, neuroinflammation, p.R225W, pediatric and adult neurodegeneration, perforin, perforin1, primary, varicella infection

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