{"id":"W1981634693","doi":"10.1086/321278","title":"Etiological Point Mutations in the Hereditary Multiple Exostoses Gene EXT1: A Functional Analysis of Heparan Sulfate Polymerase Activity","year":2001,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Bone Tumor Diagnosis and Treatments","field":"Medicine","cited_by":77,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Cancer Institute; National Institute of General Medical Sciences; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Frameshift mutation; Missense mutation; Biology; Mutant; Genetics; Gene; Point mutation; Mutation; 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":[0.0001182425,0.0006566666,0.0002775378,0.0009864311,0.0002408375,0.0002168126,0.0002611749,0.0005976956,0.001972156],"category_scores_gemma":[0.0005581024,0.0001564896,0.0002735474,0.0004164957,0.0003629724,0.0001151294,0.0002080602,0.0003782243,0.0002185171],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002461284,"about_ca_system_score_gemma":0.0001318345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006556364,"about_ca_topic_score_gemma":0.0005755484,"domain_scores_codex":[0.9998317,0.00002376473,0.0000282256,0.00003625925,0.00005725484,0.00002286081],"domain_scores_gemma":[0.999687,0.0001396943,0.00007803766,0.00001606024,0.00003372117,0.00004548403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001831366,0.0002329333,0.06422609,0.0001408278,0.0001157072,0.04610674,0.0002674513,0.001054731,0.8730636,0.001274306,0.0002936182,0.01139265],"study_design_scores_gemma":[0.0002088178,0.0009498816,0.3834437,0.00006383261,0.0003930646,0.15768,0.0003727348,0.005922013,0.445973,0.0009458771,0.00397629,0.00007093767],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980772,0.0003279132,0.0007622277,0.00006215856,0.00001466016,0.000009023261,0.0002379448,0.00001731697,0.0004916011],"genre_scores_gemma":[0.9990416,0.0001041871,0.000330415,0.00002008982,0.000007748275,0.000003134928,0.0001318517,0.000008725663,0.0003523269],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001972156,"threshold_uncertainty_score":0.006597579,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04323589080399141,"score_gpt":0.3123931246421731,"score_spread":0.2691572338381817,"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."}}