Gene table: search width pubmed_id = 9758617


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenic syndrome, congenital, 5 - (AR)
11.12
9758617
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit
* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD
* Myasthenic syndrome, congenital, 5 - CMS5