{"id":"W2052514708","doi":"10.1002/humu.22170","title":"Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease","year":2012,"lang":"en","type":"article","venue":"Human Mutation","topic":"Congenital gastrointestinal and neural anomalies","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Canadian Institutes of Health Research; University of Guelph; Cancer Research Institute","keywords":"Biology; Proto-Oncogene Proteins c-ret; Missense mutation; Receptor tyrosine kinase; Kinase; Protein kinase domain; Gene; Tyrosine kinase; Signal transduction; Genetics; Cell biology; Cancer research; Phenotype; Receptor; Mutant; Glial cell line-derived neurotrophic factor","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008823627,0.00007987332,0.0001147507,0.00008343573,0.0000364476,0.000004130542,0.00002174366,0.00001816946,0.0000638604],"category_scores_gemma":[0.0002682921,0.00006966462,0.00004105679,0.00009924308,0.00004831715,0.0001511458,0.00001612352,0.00007164356,0.00001883001],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003952564,"about_ca_system_score_gemma":0.00001977505,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003472838,"about_ca_topic_score_gemma":0.00002290584,"domain_scores_codex":[0.9993954,0.00004138277,0.0001637689,0.0001083778,0.0001466068,0.0001445036],"domain_scores_gemma":[0.9995789,0.0001250208,0.00005579282,0.00008054364,0.00004463298,0.0001151445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004494154,0.000296913,0.5939417,0.0003307105,0.000009322674,0.0002185053,0.0004900723,0.0000113397,0.4011386,0.00122611,0.00002883073,0.001858455],"study_design_scores_gemma":[0.001052148,0.0001266217,0.9922586,0.0001946182,0.00003197036,0.00004868724,0.00005601407,0.0001500298,0.005287449,0.0007199897,0.00001211126,0.00006177629],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991497,0.0001545787,0.0001342366,0.00008698069,0.00008491206,0.0002079276,0.00000610479,0.0000219457,0.0001536278],"genre_scores_gemma":[0.9991228,0.000001111766,0.0004253596,0.00006313423,0.0001092934,0.0000206257,0.00007680989,0.00000753778,0.000173353],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3983168,"threshold_uncertainty_score":0.2840841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03465259857074229,"score_gpt":0.2743891693653664,"score_spread":0.2397365707946241,"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."}}