{"id":"W1926642173","doi":"10.1111/cge.12561","title":"LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues","year":2015,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Hospital for Sick Children; University of Ottawa; Ottawa Hospital; McGill University; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Genome British Columbia; Ontario Genomics Institute; Government of Canada","keywords":"Missense mutation; Limb-girdle muscular dystrophy; Muscular dystrophy; Cardiomyopathy; Muscle biopsy; Exome sequencing; Medicine; Proximal muscle weakness; Compound heterozygosity; Congenital muscular dystrophy; Genetics; Pathology; Mutation; Biopsy; Internal medicine; Biology; Heart failure; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003208645,0.0001692182,0.0002811546,0.00002288884,0.00007460986,0.00001961189,0.0001357423,0.000299857,0.000003569402],"category_scores_gemma":[0.0007374577,0.0001464988,0.0001167236,0.00009203763,0.000319924,0.000002959691,0.0001090856,0.0001461003,0.000004207912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007445245,"about_ca_system_score_gemma":0.0001357489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005766504,"about_ca_topic_score_gemma":0.00003850556,"domain_scores_codex":[0.9987897,0.0001535729,0.0002942698,0.0004145494,0.0001261339,0.0002218181],"domain_scores_gemma":[0.9990206,0.00005772197,0.0001377718,0.0003504154,0.0002066219,0.0002268403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003995945,0.003698482,0.864235,0.0001387236,0.003983932,0.0002173869,0.0008985634,0.01074046,0.07655463,0.0002934736,0.01454454,0.02069886],"study_design_scores_gemma":[0.02153993,0.008393091,0.9165246,0.0001141484,0.0008686192,0.0001034369,0.0022884,0.001364416,0.003927417,0.001605655,0.04155158,0.001718668],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958522,0.001663617,0.001547719,0.0001288252,0.0001615836,0.0001994658,0.00007829918,0.00001894843,0.0003493171],"genre_scores_gemma":[0.9976538,0.0001962617,0.001063703,0.0003982448,0.0002369485,0.00001889373,0.0002285448,0.00002507742,0.0001784585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07262722,"threshold_uncertainty_score":0.5974047,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04637510683105722,"score_gpt":0.3112039627439651,"score_spread":0.2648288559129078,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}