{"database":"EVA","file_versions":[],"scores":null,"additional":{"dataset_type":["Whole Genome Sequencing"],"omics_type":["Genomics"],"submitter":["Department of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University"],"instrument_platform":["-"],"species":["Canis Lupus Familiaris"],"full_dataset_link":["https://www.ebi.ac.uk/eva/?eva-study=PRJEB56780"],"repository":["EVA"],"name_synonyms":["Percussion Myotonia, Percussion Myotonias, Myotonia, Myotonic Phenomenons, Delayed relaxation of muscle fibers after contraction, Myotonic, Phenomenons, Percussion, Percussion., Delayed relaxation of muscle fibres after contraction, Myotonias, Phenomenon, Myotonic Phenomenon"],"description_synonyms":["Isaacs' Syndrome, Acquired, Continuous, Myokymia, Continuous Myokymias., Pseudomyotonia Syndrome of Isaacs, Isaacs-Mertens Syndrome, Syndrome of Continuous Muscle Activity, Myokymias, causes, And Hyperhidrosis, Neuromyotonia, Isaac Syndrome, Continuous Muscle Activity Syndrome, Continuous Myokymia, Myotonia, Isaacs Mertens Syndrome, Acquired Neuromyotonia, Gamstorp-Wohlfart Syndrome, Isaacs Pseudomyotonia Syndrome, Muscle Wasting, causality, pathogenesis, Pseudomyotonia, Gamstorp Wohlfart Syndrome, Quantal Squander"],"additional_accession":[]},"is_claimable":false,"name":"SLC7A10 variant causal for paradoxical pseudo myotonia in English Spaniels","description":"The recessive c.126C>A(p.(Cys42Ter) SLC7A10 nonsense variant causes paradoxical pseudomyotonia in English Springer and Cocker Spaniels.","dates":{"publication":"2024-09-22"},"accession":"PRJEB56780","cross_references":{"TAXONOMY":["9615"]}}