SWISSVAR
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1 protein found in SwissVar (2 variants)

with gene/protein name Q8IW45

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)
Q8IW45 NNRD_HUMAN encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 p.Gly81Ser
p.Arg326Cys