{"id":"W4406021653","doi":"10.1002/ana.27141","title":"Phenotype Spectrum of <scp>TRPM3</scp>‐Associated Disorders","year":2025,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Bundesministerium für Bildung und Forschung; National Institute of Neurological Disorders and Stroke; Deutsche Forschungsgemeinschaft","keywords":"Epilepsy; Hypotonia; Intellectual disability; Global developmental delay; Medicine; Pediatrics; Phenotype; Psychomotor learning; Neurology; Psychiatry; Genetics; Cognition; Biology; Gene","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":[0.0002844263,0.0005594578,0.0004028433,0.001215309,0.00026152,0.0002850384,0.0002454444,0.0003546686,0.00280693],"category_scores_gemma":[0.0009473134,0.0000627367,0.0003577779,0.001041286,0.0002511418,0.0001989009,0.0003276252,0.0001397749,0.0004769142],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001348928,"about_ca_system_score_gemma":0.0003102524,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000591476,"about_ca_topic_score_gemma":0.0007007295,"domain_scores_codex":[0.9997055,0.00004557949,0.00006383943,0.00007861157,0.00006892255,0.00003754595],"domain_scores_gemma":[0.9995376,0.0001466087,0.0001936747,0.00001864014,0.00006166363,0.00004180113],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001262375,0.0001035433,0.7393218,0.001188633,0.0003917417,0.1124263,0.0004451264,0.0004489868,0.06240946,0.0006246066,0.003143256,0.07823419],"study_design_scores_gemma":[0.0001049292,0.0004236968,0.5974129,0.0003396207,0.0002646076,0.383102,0.0003880564,0.0004876097,0.009364476,0.0007786906,0.007308278,0.00002507716],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9871229,0.005364283,0.001457946,0.0002082263,0.00001666362,0.00005722003,0.001994391,0.00008502893,0.003693297],"genre_scores_gemma":[0.9959706,0.001269639,0.0009894453,0.00007830071,0.00003155505,0.00002636224,0.001336761,0.00001413357,0.00028322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00280693,"threshold_uncertainty_score":0.009390116,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03788661818667508,"score_gpt":0.3009842208691116,"score_spread":0.2630976026824365,"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."}}