Disease: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHRNB1 P11230 cholinergic receptor nicotinic beta 1 subunit Ion channel 5.0E-08 0.700 0.462