{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001621556,0.0007942954,0.0003631342,0.0008954108,0.0003667052,0.000230788,0.0002700061,0.0005063514,0.002044542],"category_scores_gemma":[0.0007641547,0.0002971551,0.0002913912,0.0003580918,0.0005805049,0.0002129413,0.0004090639,0.0003006851,0.0002369229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000196778,"about_ca_system_score_gemma":0.0002006289,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009168207,"about_ca_topic_score_gemma":0.002406642,"domain_scores_codex":[0.9998171,0.00003056892,0.00002661812,0.00004964116,0.00004930325,0.00002678558],"domain_scores_gemma":[0.9997569,0.00005540327,0.0001160229,0.00001407123,0.0000150808,0.00004245814],"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":[0.001108032,0.0001469668,0.3226141,0.0002529067,0.0002490959,0.09609391,0.001316301,0.0003951065,0.5512027,0.001198149,0.0003879661,0.02503479],"study_design_scores_gemma":[0.00008709029,0.0005725245,0.6306194,0.00003578462,0.0001390179,0.3308978,0.0003717962,0.0004036689,0.0337707,0.0004630793,0.00260231,0.0000367764],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984308,0.0003202763,0.0005350106,0.00002623103,0.00000384852,0.00001116632,0.0001111992,0.00001629512,0.0005451851],"genre_scores_gemma":[0.9978054,0.0002320091,0.001311092,0.00002743043,0.00000616056,0.00001268151,0.0001841051,0.000006849426,0.0004142585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002044542,"threshold_uncertainty_score":0.006839633,"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."}}