{"id":"W2074284323","doi":"10.1038/jhg.2010.137","title":"A new c.1621 C&gt;G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype–phenotype correlation","year":2010,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"","keywords":"LMNA; Lamin; Mutation; Dilated cardiomyopathy; Phenotype; Genotype; Cardiac fibrosis; Biology; Genetics; Cardiomyopathy; Internal medicine; Genotype-phenotype distinction; Gene; Heart failure; Cardiology; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001578389,0.0001344535,0.000143329,0.000126386,0.00006650331,0.00003797425,0.00008725164,0.0001613325,0.0000186483],"category_scores_gemma":[0.00001933241,0.000114683,0.00004275635,0.00008071629,0.00005215928,0.00001672957,0.00002215457,0.0001981375,0.00000147896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000014258,"about_ca_system_score_gemma":0.00007982232,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002162421,"about_ca_topic_score_gemma":0.0004902944,"domain_scores_codex":[0.9991733,0.000038038,0.0003121264,0.0001530181,0.0001921974,0.0001312885],"domain_scores_gemma":[0.9993152,0.000009169126,0.0002725518,0.0001375919,0.0001929668,0.00007251265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005158,0.00005162899,0.02655653,0.00002837626,0.00005951635,0.000020598,0.0004117753,0.0006752644,0.9610826,0.00105272,0.0015931,0.007952089],"study_design_scores_gemma":[0.002441976,0.001687309,0.9747428,0.00003571967,0.0001016815,0.0005502596,0.0002150303,0.0004782961,0.008373136,0.002408134,0.008639043,0.0003266244],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948792,0.0004985284,0.003976715,0.0001149041,0.0001949123,0.0000890197,0.000001358109,0.00000420415,0.0002411305],"genre_scores_gemma":[0.9942734,0.00008274856,0.004553745,0.000134832,0.0005722462,9.694631e-7,0.00003512539,0.00002348,0.0003234186],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9527095,"threshold_uncertainty_score":0.4676635,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006881335026923973,"score_gpt":0.2166294566565243,"score_spread":0.2097481216296003,"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."}}