{"id":"W3033115923","doi":"10.1016/j.nmd.2020.05.009","title":"SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Hôpital de l'Enfant-Jésus","funders":"","keywords":"Spinal muscular atrophy; Muscle contracture; SMA*; Atrophy; Phenotype; SMN1; Anatomy; Medicine; Pathology; Muscle weakness; Weakness; Biology; Gene; Disease; Genetics","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":[0.000100696,0.0001832489,0.0004322691,0.0001062227,0.00004433041,0.000007911672,0.00009141854,0.000054457,0.00006106269],"category_scores_gemma":[0.0004165231,0.0001520306,0.0001514407,0.0003994128,0.0004236503,0.00004284102,0.0000617886,0.0002013122,0.000002402099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005252395,"about_ca_system_score_gemma":0.0002237568,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009065183,"about_ca_topic_score_gemma":0.00004329474,"domain_scores_codex":[0.9982806,0.00007778272,0.0003914759,0.0004428419,0.0005701355,0.0002371315],"domain_scores_gemma":[0.9990221,0.00008902112,0.0001443411,0.000354097,0.0001431248,0.0002472681],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003180313,0.002751487,0.6279845,0.00318431,0.001540444,0.01076925,0.002453938,0.0009724033,0.276214,0.001027285,0.000590807,0.06933118],"study_design_scores_gemma":[0.03627006,0.02055463,0.8176356,0.0004405573,0.003526919,0.009267175,0.003199234,0.005555623,0.07330652,0.0006227019,0.02787942,0.001741566],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934539,0.001040163,0.001533084,0.002653024,0.00002242256,0.0006530539,0.00001106388,0.00003338,0.000599962],"genre_scores_gemma":[0.996548,0.0003548231,0.002636927,0.0002831537,0.00002637913,0.00002296516,0.00004179448,0.00004553548,0.00004041354],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2029075,"threshold_uncertainty_score":0.6199628,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02621823949572441,"score_gpt":0.2922126494045951,"score_spread":0.2659944099088707,"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."}}