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1 protein found in SwissVar (2 variants)

with gene/protein name Q9C0K0

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)
Q9C0K0 BC11B_HUMAN immunodeficiency 49 p.Asn441Lys

Q9C0K0 BC11B_HUMAN intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities