{"id":"W2019784131","doi":"10.1159/000183899","title":"Three Novel &lt;i&gt;IGFALS&lt;/i&gt; Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins","year":2009,"lang":"en","type":"article","venue":"Hormone Research in Paediatrics","topic":"Growth Hormone and Insulin-like Growth Factors","field":"Medicine","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Exon; Gene; Mutation; Genetics; Short stature; Biology; Internal medicine; Molecular biology; Endocrinology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000256881,0.001717432,0.0005968266,0.001077606,0.0009547899,0.000780854,0.0006645015,0.001255978,0.001317101],"category_scores_gemma":[0.0009996841,0.0005704807,0.000791851,0.0008056432,0.001466734,0.0004141181,0.0009258747,0.0009530658,0.0002566394],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001061702,"about_ca_system_score_gemma":0.000724813,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003729299,"about_ca_topic_score_gemma":0.005944836,"domain_scores_codex":[0.9994426,0.00003372284,0.00007066443,0.0001842166,0.0001008909,0.0001679046],"domain_scores_gemma":[0.9992917,0.0001624946,0.0002371293,0.00002746707,0.0000452153,0.0002358996],"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":[0.0004812865,0.0002115262,0.1982803,0.0001599756,0.0001687396,0.7415121,0.002614496,0.0004677864,0.04768099,0.0005290135,0.0006390206,0.007254738],"study_design_scores_gemma":[0.0001127128,0.0005075381,0.2215772,0.00003328622,0.0001618605,0.7603382,0.0007550869,0.0003517247,0.01291656,0.0001646241,0.003011149,0.00007004423],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986176,0.0001703387,0.0004557255,0.0000607109,0.0000199661,0.00001768015,0.0001858599,0.00002865071,0.0004434185],"genre_scores_gemma":[0.9977164,0.0001261659,0.001156462,0.00008591644,0.00002586891,0.00001945854,0.0002721022,0.00002366403,0.0005738121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003729299,"threshold_uncertainty_score":0.007703245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05554779978127112,"score_gpt":0.3284573601250363,"score_spread":0.2729095603437652,"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."}}