{"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":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.0008102889,0.0001657322,0.0003218462,0.001247563,0.0001625522,0.00002664742,0.000459274,0.0001200335,0.0001050765],"category_scores_gemma":[0.002927845,0.0001484038,0.00006828859,0.006870612,0.004158095,0.00047925,0.0001151676,0.0003418023,0.00001397812],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008136807,"about_ca_system_score_gemma":0.000274768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005171325,"about_ca_topic_score_gemma":0.0001133352,"domain_scores_codex":[0.9976998,0.0001580481,0.0005139099,0.0007145015,0.0005016521,0.000412074],"domain_scores_gemma":[0.9988801,0.0003213048,0.0002802876,0.0001556095,0.0002051681,0.0001574829],"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":[0.000006185504,0.0002729991,0.3088631,0.00000227371,0.00000389299,0.00001683814,0.001057059,0.0009067327,0.6886328,0.0001990254,4.358459e-7,0.00003863999],"study_design_scores_gemma":[0.0002537848,0.0001002611,0.4598509,0.000005492229,0.00001161817,0.00001299876,0.00008349012,0.005032703,0.5337068,0.0008459208,5.870259e-7,0.00009539371],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985308,0.000001951585,0.0000193149,0.00009598488,0.0004291252,0.0003487582,0.00002484013,0.00001319381,0.0005359983],"genre_scores_gemma":[0.9988821,9.532003e-7,0.0009065786,0.00008800618,0.00001745059,0.00005104994,0.00001136947,0.000008137414,0.00003438768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.154926,"threshold_uncertainty_score":0.998552,"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."}}