{"id":"W2491543569","doi":"10.1089/thy.2015.0672","title":"Familial Central Hypothyroidism Caused by a Novel <i>IGSF1</i> Gene Mutation","year":2016,"lang":"en","type":"article","venue":"Thyroid","topic":"Thyroid Disorders and Treatments","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Proband; Mutation; Compound heterozygosity; Genetics; Biology; Mutant protein; Stop codon; Gene; Molecular biology","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":[0.0001832561,0.001520417,0.0004363398,0.0005422715,0.0007311702,0.0002873131,0.0005124752,0.001056058,0.002825312],"category_scores_gemma":[0.000467326,0.0002069429,0.0006032461,0.0004270153,0.0009064107,0.00014037,0.0004741275,0.000774461,0.0005202901],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006756564,"about_ca_system_score_gemma":0.0003537656,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001899604,"about_ca_topic_score_gemma":0.001410992,"domain_scores_codex":[0.999833,0.00001528105,0.00001687932,0.00005413502,0.00003655679,0.0000440267],"domain_scores_gemma":[0.9996152,0.0001172806,0.00009692427,0.00001846879,0.00003457039,0.0001175733],"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":[0.0005466784,0.0001886861,0.04286601,0.0001638505,0.000112663,0.8182184,0.0007180239,0.0003920036,0.1234997,0.0007675165,0.002145395,0.01038108],"study_design_scores_gemma":[0.0001512745,0.000427877,0.06566133,0.00006096394,0.0001636828,0.9008789,0.0001730792,0.001353006,0.02662972,0.0003685253,0.004089303,0.00004227773],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949797,0.0004828011,0.001072132,0.0002590679,0.00006242332,0.00003127828,0.0002500768,0.0001803993,0.002682249],"genre_scores_gemma":[0.9986473,0.00006999353,0.0005117749,0.0001014443,0.00004976936,0.000006276846,0.0001133927,0.00001345719,0.0004866135],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002825312,"threshold_uncertainty_score":0.009451628,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01164012849062574,"score_gpt":0.2328464312263179,"score_spread":0.2212063027356922,"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."}}