Associated Papers
Diagnosing myasthenia gravis versus congenital myasthenia gravis in British Shorthair cats: A case study.
Amfim A et al.
Journal of Biological Methods, 2025
Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.
Boeykens F et al.
Frontiers in Veterinary Science, 2024
39703406 (PubMed )
Supplement: Table_1.XLSX › Sheet1
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
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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.
Gandolfi B et al.
Animal Genetics, 2015
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.
Abitbol M et al.
Plos One, 2015
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