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1 protein found in SwissVar (1 variants)

with gene/protein name Q15813

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)
Q15813 TBCE_HUMAN hypoparathyroidism-retardation-dysmorphism syndrome
Q15813 TBCE_HUMAN kenny-caffey syndrome 1
Q15813 TBCE_HUMAN encephalopathy, progressive, with amyotrophy and optic atrophy p.Ile155Asn