The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
published in: Genes
date of publication: 2020-12-18
main subject: congenital myasthenic syndrome, homozygosity
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Article - wd:Q104560471