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1 protein found in SwissVar (0 variants)

with gene/protein name Q8IZF0

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)
Q8IZF0 NALCN_HUMAN hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Q8IZF0 NALCN_HUMAN congenital contractures of the limbs and face, hypotonia, and developmental delay