# congenital myasthenic syndrome 2C

> human disease

**Wikidata**: [Q32140177](https://www.wikidata.org/wiki/Q32140177)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-2c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)