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1 protein found in SwissVar (2 variants)

with gene/protein name Q9NYG8

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)
Q9NYG8 KCNK4_HUMAN facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome p.Ala172Glu