Associated Papers
Effects of COLQ Gene Missense Mutations on Growth and Meat Traits in Leizhou Black Goats.
Huang J et al.
Animals : an Open Access Journal From Mdpi, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
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
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T et al.
Neurogenetics, 2023
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S et al.
Current Neuropharmacology, 2023
36703579 (PubMed )
Supplement: CN-21-1594_SD1.pdf
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R et al.
Molecular Biology Reports, 2021
Myotonia congenita in a Labrador Retriever with truncated CLCN1.
Quitt PR et al.
Neuromuscular Disorders : Nmd, 2018
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni S et al.
Neuromuscular Disorders : Nmd, 2017
Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review.
Shelton GD
Neuromuscular Disorders : Nmd, 2016
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik HN et al.
Pediatric Neurology, 2014
A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.
Rinz CJ et al.
Plos One, 2014
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