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1 protein found in SwissVar (0 variants)

with gene/protein name Q5THJ4

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)
Q5THJ4 VP13D_HUMAN childhood onset movement disorders, characterized in most cases by developmental delay, axial hypotonia and hyperkinetic movement disorders associated with spastic paraparesis, as well as truncal and appendicular ataxia