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|
|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|