{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001284438,0.001120562,0.0003619982,0.0007405967,0.0003936506,0.0003660317,0.000394095,0.0008682772,0.002161305],"category_scores_gemma":[0.0005938009,0.0002540498,0.0003207781,0.0005414372,0.0007172696,0.000232487,0.0006844214,0.0003079394,0.0004656674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003100392,"about_ca_system_score_gemma":0.0002317925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006878538,"about_ca_topic_score_gemma":0.001226682,"domain_scores_codex":[0.9998425,0.00001293381,0.00002008311,0.00005254267,0.00004253692,0.00002935365],"domain_scores_gemma":[0.9997541,0.00004431886,0.00007353145,0.00001066461,0.00001494023,0.0001024362],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006033392,0.0001016762,0.0449685,0.0001911667,0.00007415465,0.7697552,0.0006835559,0.0003707153,0.1715709,0.0007229935,0.001435515,0.009522337],"study_design_scores_gemma":[0.000147975,0.0003694994,0.1681289,0.00006986586,0.00008605776,0.8024114,0.0003276322,0.001333262,0.02229971,0.0005531518,0.004226657,0.00004585853],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958659,0.0002620684,0.0008579043,0.0002376297,0.00003301344,0.00002863414,0.0004107706,0.00009622493,0.002207768],"genre_scores_gemma":[0.9976569,0.000136351,0.0007418234,0.00009120365,0.0000315816,0.000009913473,0.0002994225,0.00001610033,0.001016663],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002161305,"threshold_uncertainty_score":0.007230222,"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."}}