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1 protein found in SwissVar (1 variants)

with gene/protein name Q96E22

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)
Q96E22 NGBR_HUMAN congenital disorder of glycosylation 1aa p.Arg290His

Q96E22 NGBR_HUMAN mental retardation, autosomal dominant 55, with seizures