{"id":"W1136021758","doi":"","title":"Mutation Analysis in a Cohort of CSNB Patients: Novel Mutations in TRPM1 Gene","year":2010,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; BC Children's Hospital; University of Calgary","funders":"","keywords":"Genetics; Mutation; Gene; Biology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002015313,0.0006621327,0.0004603079,0.001592915,0.001327292,0.0006351219,0.0004528085,0.0007496543,0.002488756],"category_scores_gemma":[0.001645461,0.0002527758,0.0004420238,0.0008252028,0.0004709084,0.0003533698,0.0003978524,0.0003733087,0.0003949408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003027095,"about_ca_system_score_gemma":0.0003545803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003384457,"about_ca_topic_score_gemma":0.001777218,"domain_scores_codex":[0.9997143,0.00001783447,0.00003639401,0.0001018922,0.00006283484,0.00006674314],"domain_scores_gemma":[0.9995145,0.0001528571,0.00007756421,0.00004487476,0.00007284774,0.0001374775],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001135263,0.0003509519,0.7776951,0.00003945201,0.0001010549,0.09306119,0.001747511,0.0004444518,0.1150504,0.0003392707,0.0007505484,0.009284775],"study_design_scores_gemma":[0.00009536435,0.0007032152,0.7385876,0.00001831837,0.00023009,0.2424953,0.001180392,0.002250656,0.01188256,0.0003766406,0.002122925,0.00005700736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994192,0.00004503592,0.000109124,0.00002884972,0.000003577811,0.000006727238,0.0001039202,0.000007420195,0.0002761364],"genre_scores_gemma":[0.9994888,0.0000304669,0.0001323704,0.00001996546,0.000007654803,0.000006434633,0.0001210461,0.000006770799,0.0001865084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003384457,"threshold_uncertainty_score":0.008325756,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03795431195889631,"score_gpt":0.3392493221486517,"score_spread":0.3012950101897554,"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."}}