{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002785935,0.0005527388,0.0003778624,0.0003393655,0.0001839313,0.0002553714,0.0001616837,0.000468634,0.0005373788],"category_scores_gemma":[0.0002798023,0.0001579344,0.000313291,0.0001504985,0.0004249346,0.0001757635,0.0001874732,0.0003157965,0.000109135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002268499,"about_ca_system_score_gemma":0.0001187873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005002031,"about_ca_topic_score_gemma":0.0008254801,"domain_scores_codex":[0.9997405,0.00008036327,0.0000382869,0.00004086693,0.00006271376,0.00003733107],"domain_scores_gemma":[0.9998597,0.00006168509,0.00002874667,0.00001159815,0.000009321693,0.00002898006],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004521621,0.00005595952,0.001326671,0.00003159892,0.00003217524,0.001326089,0.00002884261,0.0003317338,0.9939324,0.0001105686,0.00001881265,0.002352942],"study_design_scores_gemma":[0.00005845799,0.002482202,0.02763073,0.00001165075,0.0001940886,0.008677586,0.00006873579,0.001820914,0.9577987,0.0001638293,0.001066123,0.00002702723],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990622,0.0005593458,0.0001537755,0.00001470682,0.000004043786,0.000003261817,0.00004065299,0.000007173482,0.0001547125],"genre_scores_gemma":[0.9994047,0.0002221125,0.0002059574,0.00001404678,0.000002720622,0.000002012207,0.00005290725,0.000006691647,0.00008887209],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0005527388,"threshold_uncertainty_score":0.001797676,"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."}}