{"id":"W3109361845","doi":"10.1210/jendso/bvaa183","title":"Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention","year":2020,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Intron; Gene isoform; Mutation; Exome sequencing; Genetics; Gene; Biology; Exome; Transmembrane domain; Thyroid","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":[0.0001255283,0.0008944299,0.0003157935,0.0006487642,0.0005277161,0.0002867554,0.0003640949,0.001041056,0.001463917],"category_scores_gemma":[0.0005182343,0.0002893465,0.0004478897,0.0003080766,0.0007885818,0.0001468749,0.0004965665,0.0006891103,0.000180538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005390309,"about_ca_system_score_gemma":0.0003422111,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001753317,"about_ca_topic_score_gemma":0.003166998,"domain_scores_codex":[0.9998255,0.00001441297,0.00001808326,0.00006364963,0.0000405682,0.00003783753],"domain_scores_gemma":[0.9997131,0.00007970817,0.000070148,0.00001731465,0.00001619312,0.0001034492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002340354,0.0000709968,0.04620897,0.00006336012,0.00005647606,0.7926682,0.0007024502,0.0003507259,0.1534278,0.000709816,0.0002771741,0.005230044],"study_design_scores_gemma":[0.00006760705,0.0004443131,0.1388237,0.00001998293,0.00008732764,0.8355129,0.0002467583,0.00118834,0.02190659,0.0004317567,0.001228914,0.00004180271],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979831,0.000112809,0.0007103877,0.0001662205,0.0000229366,0.00001285557,0.00008807202,0.00004007274,0.0008634924],"genre_scores_gemma":[0.9988825,0.00004799715,0.0004103244,0.00008180061,0.00001637704,0.000003482889,0.00003865465,0.00001111472,0.0005076539],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001753317,"threshold_uncertainty_score":0.004897296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01608157692163975,"score_gpt":0.2466389264455978,"score_spread":0.230557349523958,"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."}}