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1 protein found in SwissVar (1 variants)

with gene/protein name Q8NF50

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)
Q8NF50 DOCK8_HUMAN hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive p.Lys473Arg

Q8NF50 DOCK8_HUMAN mental retardation, autosomal dominant 2