{"id":"W1973895606","doi":"10.1002/humu.22554","title":"Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies","year":2014,"lang":"en","type":"article","venue":"Human Mutation","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":111,"is_retracted":false,"has_abstract":true,"ca_institutions":"Glenrose Rehabilitation Hospital; University of Alberta","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; Medical Research Council; National Institutes of Health; Sigrid Juséliuksen Säätiö; National Health and Medical Research Council; Muscular Dystrophy Association; European Commission; British Heart Foundation; Dubai Harvard Foundation for Medical Research; Finska Läkaresällskapet","keywords":"Nemaline myopathy; Biology; Tropomyosin; Mutation; Myopathy; Actin; Genetics; Phenotype; Compound heterozygosity; Muscle contracture; Congenital myopathy; Gene; Pathology; Medicine; Anatomy; Muscle biopsy; Biopsy","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0006263607,0.0005037212,0.0006179252,0.001562536,0.0002342472,0.0007225688,0.000729577,0.0009824454,0.00159291],"category_scores_gemma":[0.001903277,0.0001616776,0.0005050075,0.0006284087,0.0001838294,0.0005043182,0.0003275675,0.0004622954,0.0007781594],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003245144,"about_ca_system_score_gemma":0.0003318878,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008320232,"about_ca_topic_score_gemma":0.001256213,"domain_scores_codex":[0.9995894,0.00003739362,0.0001284191,0.00009265236,0.0001138662,0.00003820653],"domain_scores_gemma":[0.9986584,0.0003277276,0.0002129339,0.00009090069,0.0005265554,0.000183384],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001364477,0.0004660644,0.2665625,0.0009361649,0.0005141032,0.05871477,0.0007256446,0.0007619573,0.06581144,0.0009733818,0.04575121,0.5574182],"study_design_scores_gemma":[0.0001984115,0.0007187451,0.4488637,0.00039959,0.0009495632,0.2874209,0.0002808514,0.002391911,0.02656741,0.0005311227,0.2315639,0.00011391],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9289805,0.04041182,0.005994462,0.003648952,0.001563556,0.0001481721,0.00404144,0.001115186,0.01409592],"genre_scores_gemma":[0.9406337,0.02030456,0.01384775,0.003715743,0.003473404,0.00009368055,0.01060993,0.0002715979,0.0070495],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00159291,"threshold_uncertainty_score":0.005328774,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02362160857354529,"score_gpt":0.2726633331415927,"score_spread":0.2490417245680474,"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."}}