Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.G294R
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COLQ

NM_005677.4:p.G294R

Associated Papers

Independent CHRNE mutations at serine 503 in English Springer Spaniels and a Smooth Fox Terrier having congenital myasthenic syndrome.

Peterson E et al.

Animal Genetics, 2024

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.

Tsai KL et al.

Journal of Veterinary Internal Medicine, 2020

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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."