{"id":"W2003540331","doi":"10.1002/ajmg.a.33414","title":"Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Dysplasia; TRPV4; Phenotype; Medicine; Mutation; Genetics; Pathology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004803397,0.0002529056,0.0005245041,0.0001478167,0.0001742651,0.00007587279,0.0005105077,0.0001494733,0.0006704552],"category_scores_gemma":[0.001765072,0.0001988185,0.00008174452,0.000745844,0.001112805,0.0001050123,0.00009410883,0.0009587994,0.00007458028],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002358246,"about_ca_system_score_gemma":0.000500704,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001088912,"about_ca_topic_score_gemma":0.00001719555,"domain_scores_codex":[0.9969941,0.0002336056,0.0006616215,0.0003160298,0.001310241,0.0004843771],"domain_scores_gemma":[0.9973708,0.000432994,0.0006492955,0.0002005949,0.0002048378,0.001141459],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005466805,0.001553985,0.009499211,0.0001861583,0.0002989935,0.003899412,0.002710015,0.0002832838,0.8133742,0.0003466052,0.1044565,0.06284489],"study_design_scores_gemma":[0.01521214,0.02986105,0.03790422,0.002272202,0.001531327,0.0599915,0.007695823,0.02194593,0.2940417,0.002510308,0.5214443,0.005589495],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933064,0.0001712036,0.0001789612,0.003800509,0.002270871,0.0001383716,0.00002472258,0.00002105331,0.0000879189],"genre_scores_gemma":[0.9967868,0.000972188,0.0005600851,0.00102264,0.0003177786,0.000003692744,0.000005087708,0.00004009895,0.0002915742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5193325,"threshold_uncertainty_score":0.8107584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01619012069719058,"score_gpt":0.278551213035598,"score_spread":0.2623610923384074,"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."}}