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Human Disease and Mouse Model Detail
Human Disease Endplate Acetylcholinesterase Deficiency; EAD
OMIM ID: 603034
Synonyms Cms IC; Congenital Myasthenic Syndrome Type Ic; CMS1C; Engel Congenital Myasthenic Syndrome; Myasthenic Syndrome, Congenital, Engel Type
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     COLQ*   0:1 Homology

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.21
The Jackson Laboratory