{"id":"W2171795871","doi":"10.1111/j.1399-0004.2007.00740.x","title":"Novel<i> LMNA </i>mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)","year":2007,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; University of British Columbia; St. Michael's Hospital; Robarts Clinical Trials","funders":"Heart and Stroke Foundation of Canada","keywords":"LMNA; Library science; Medicine; Columbia university; Gerontology; Genetics; Biology; Media studies; Mutation; Sociology","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":[0.0003804818,0.001765865,0.001055605,0.0008297762,0.001331792,0.001437526,0.001204538,0.01014741,0.00403095],"category_scores_gemma":[0.002709682,0.0004892754,0.0008913509,0.0007576253,0.001477196,0.0008357438,0.0004986473,0.00305828,0.001357528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001022445,"about_ca_system_score_gemma":0.0005162428,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002076098,"about_ca_topic_score_gemma":0.001957029,"domain_scores_codex":[0.9995329,0.00007354953,0.00005360184,0.0001091854,0.0000884148,0.0001423688],"domain_scores_gemma":[0.9990576,0.0004386238,0.0001274355,0.00005584682,0.00008945096,0.0002310556],"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":[0.0003850751,0.00004879653,0.00862863,0.00005576838,0.00004351255,0.9623268,0.0002146124,0.0001770614,0.007558616,0.0007524209,0.01666933,0.003139376],"study_design_scores_gemma":[0.0002959153,0.0002236329,0.02091602,0.00006521321,0.0001565915,0.9528141,0.0002527776,0.001617563,0.004341048,0.001010145,0.01825758,0.00004939138],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7964271,0.004386473,0.002601691,0.1126395,0.01004615,0.000191496,0.001178909,0.0006414403,0.07188737],"genre_scores_gemma":[0.9630688,0.0009362402,0.001252801,0.01806003,0.008169543,0.0000703617,0.0002966073,0.0001335434,0.008012049],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01014741,"threshold_uncertainty_score":0.01348484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0172238976003671,"score_gpt":0.2771259971288709,"score_spread":0.2599020995285038,"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."}}