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- Myasthenia Gravis
- Glanzmann Thrombasthenia
- Congenital Myasthenic Syndromes
- CHRNB2 : cholinergic receptor nicotinic beta 2 subunit
- Split Hand or Foot Malformation (SHFM)
- Comprehensive List of Genetic and Rare Diseases
- TSR1
- SPAG11B
- SCN4B
- KCNK16
- GANC
- GALR1
- CHRNB4
- TYK2
- CHRNA9
- CACNG1
- BTNL9
- CHSY1
- MUSK
- RAPSN : receptor associated protein of the synapse
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