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1 protein found in SwissVar (2 variants)

with gene/protein name Q9BY32

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q9BY32 ITPA_HUMAN inosine triphosphate pyrophosphohydrolase deficiency p.Pro32Thr

Q9BY32 ITPA_HUMAN epileptic encephalopathy, early infantile, 35 p.Arg178Cys