{"id":"W2996086149","doi":"10.1002/ajmg.a.61451","title":"Renpenning syndrome in a female","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Genome British Columbia","keywords":"Genetics; Proband; Missense mutation; Short stature; Biology; Exon; Molecular biology; Mutation; Gene; Endocrinology","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":[0.00009170206,0.00117063,0.0004930292,0.0007741344,0.0005210874,0.000356247,0.0003101444,0.0009655043,0.004461161],"category_scores_gemma":[0.0004750872,0.0001867909,0.0002634954,0.0003126215,0.0003597962,0.0003669373,0.000415893,0.000560719,0.0009124011],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002612028,"about_ca_system_score_gemma":0.0003491927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001029422,"about_ca_topic_score_gemma":0.0008945296,"domain_scores_codex":[0.9998904,0.000009617478,0.000005500241,0.0000472581,0.00001959811,0.00002760521],"domain_scores_gemma":[0.9998537,0.00002764292,0.00002700793,0.00001047819,0.00001084846,0.00007019749],"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":[0.00008820175,0.00007093938,0.008603769,0.00002872156,0.0000101379,0.9625103,0.0001648104,0.00009795658,0.01858541,0.0007612459,0.001012586,0.008065862],"study_design_scores_gemma":[0.000018295,0.0001167028,0.01537167,0.000009939971,0.0000160885,0.9757488,0.00006275476,0.0003284724,0.003968524,0.0003040974,0.004039961,0.00001464707],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9760457,0.001546706,0.003460593,0.002041898,0.0003321333,0.00009358596,0.0006319304,0.0004583741,0.01538907],"genre_scores_gemma":[0.9845535,0.0008840524,0.001739843,0.0006737486,0.0002337472,0.00002859173,0.0002848125,0.00005861167,0.01154298],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004461161,"threshold_uncertainty_score":0.01492411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01155954160897201,"score_gpt":0.3033996983105148,"score_spread":0.2918401567015428,"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."}}