{"id":"W2161319188","doi":"10.1093/hmg/ddl414","title":"Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa","year":2006,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Heart, Lung, and Blood Institute","keywords":"Fibulin; Tropoelastin; Elastic fiber; Cutis laxa; Elastin; Fibrillin; Endoplasmic reticulum; Biology; Mutant; Molecular biology; Extracellular matrix; Cell biology; Biochemistry; Genetics; Anatomy; Gene","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":[0.000165414,0.0009130085,0.0002544787,0.0007040992,0.0002308404,0.0002185875,0.0001983462,0.0006522618,0.001251062],"category_scores_gemma":[0.0002434586,0.0001778852,0.0002597004,0.0001993431,0.0003222322,0.0002035861,0.0002784212,0.0002532966,0.0003155085],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002769571,"about_ca_system_score_gemma":0.0001485677,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000746636,"about_ca_topic_score_gemma":0.0008118512,"domain_scores_codex":[0.9998443,0.00003778816,0.00002751473,0.00003105915,0.00003727603,0.00002199544],"domain_scores_gemma":[0.9998801,0.00003173994,0.00004121858,0.000007786058,0.00000819973,0.00003087809],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001017847,0.0000225584,0.002855355,0.00004799983,0.00001504103,0.004010153,0.0000475966,0.0001823253,0.9910265,0.0001131546,0.00002200625,0.001555581],"study_design_scores_gemma":[0.00006859629,0.0005203564,0.09682555,0.00003419022,0.0001051222,0.05278428,0.0001715836,0.003323184,0.8440933,0.0002862052,0.001754966,0.00003257542],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979072,0.0007137595,0.0009107361,0.00002973229,0.000004400911,0.000006610816,0.00008588683,0.00004029349,0.0003014758],"genre_scores_gemma":[0.9986907,0.0002241254,0.0006290654,0.00002001116,0.000002583316,0.000006688869,0.00008771168,0.000007782362,0.0003313006],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001251062,"threshold_uncertainty_score":0.004185259,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0120054523930896,"score_gpt":0.2852364721065054,"score_spread":0.2732310197134158,"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."}}