Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.K176_G177Splc
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COLQ

NM_005677.4:p.K176_G177Splc

Associated Papers

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.

Laforgia N et al.

Genes, 2020

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D et al.

Neuromuscular Disorders : Nmd, 2005

Congenital myasthenic syndromes: progress over the past decade.

Engel AG et al.

Muscle & Nerve, 2003

Congenital myasthenic syndromes: A diverse array of molecular targets.

Engel AG et al.

Journal of Neurocytology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."