{"id":"W2022878937","doi":"10.1002/humu.21361","title":"Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Muscular Dystrophy UK; European Commission; Wellcome Trust; Medical Research Council; Muscular Dystrophy Association","keywords":"LMNA; Missense mutation; Muscular dystrophy; Genetics; Lamin; Biology; Mutation; Congenital muscular dystrophy; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001545991,0.0006201849,0.0003722324,0.001116267,0.0005321573,0.0003803803,0.0003718265,0.0008646565,0.001234507],"category_scores_gemma":[0.0007880057,0.0002286849,0.0003693836,0.0003464223,0.0004370123,0.0002523327,0.0003336609,0.0002860784,0.0003193564],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004136916,"about_ca_system_score_gemma":0.000181012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004920197,"about_ca_topic_score_gemma":0.003605232,"domain_scores_codex":[0.999806,0.00001434191,0.00003166853,0.00005510584,0.00004496621,0.00004790414],"domain_scores_gemma":[0.9997903,0.00005325114,0.00003993381,0.00001035826,0.00003725589,0.00006890026],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000692842,0.0002161731,0.6800179,0.00008676865,0.0001202171,0.1249321,0.002929639,0.0008342208,0.1669732,0.0003126662,0.0008884973,0.02199582],"study_design_scores_gemma":[0.0001170722,0.0005808438,0.7732055,0.00004489623,0.0001382247,0.1992362,0.0009073899,0.001587807,0.02031006,0.000259976,0.003552512,0.00005951972],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990253,0.0001549698,0.0001812174,0.00004395205,0.000005219592,0.000008222856,0.00008923285,0.00001328883,0.0004785724],"genre_scores_gemma":[0.9993236,0.00004787559,0.0002341282,0.0000454756,0.000006850897,0.000006276899,0.00009582486,0.000004677679,0.0002351932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004920197,"threshold_uncertainty_score":0.009783089,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005990705934408341,"score_gpt":0.19706098979908,"score_spread":0.1910702838646716,"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."}}