SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name B2RTY4

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)
B2RTY4 MYO9A_HUMAN myasthenic syndrome, congenital, 24, presynaptic p.Tyr203Cys
p.Arg1517His
p.Asp1698Gly
p.Gly2282Glu
p.Arg2283His