{"id":"W2051582141","doi":"10.1038/ng.945","title":"Mutations in TRPV4 cause an inherited arthropathy of hands and feet","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":156,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"National Health and Medical Research Council; National Medical Research Council; State Government of Victoria; Australian Government","keywords":"TRPV4; Spinal osteoarthropathy; Biology; Mutant; Phenotype; Mutation; Genetics; Transient receptor potential channel; Cell biology; Gene; Receptor","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":[0.000333294,0.002890687,0.0007700022,0.00143289,0.000980111,0.0006398478,0.001016628,0.00305555,0.005056017],"category_scores_gemma":[0.001707047,0.0005642075,0.001097444,0.0008194912,0.001485964,0.000490263,0.001170513,0.00140873,0.0006146726],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007548173,"about_ca_system_score_gemma":0.0006037108,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002362268,"about_ca_topic_score_gemma":0.002898416,"domain_scores_codex":[0.9991859,0.00009820468,0.0001006944,0.0001936466,0.0002885081,0.000133142],"domain_scores_gemma":[0.9989837,0.0004311877,0.0002416343,0.00004445282,0.00007410558,0.000224948],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001075675,0.0002179049,0.01191706,0.0002506968,0.0003450669,0.6372514,0.0005359001,0.001538872,0.3275399,0.002772721,0.002255192,0.01429962],"study_design_scores_gemma":[0.0005265232,0.0008034346,0.08166692,0.0001717087,0.0005772283,0.8306372,0.0006539457,0.005005884,0.07007404,0.003730406,0.005928833,0.0002238852],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983753,0.001289492,0.004998614,0.001412015,0.0004028819,0.00007675442,0.0007897129,0.00035907,0.006918612],"genre_scores_gemma":[0.9948067,0.0002746919,0.002095349,0.0002237523,0.0001298521,0.00001402077,0.0001361026,0.00007266854,0.002246955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005056017,"threshold_uncertainty_score":0.01691407,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04747555700970352,"score_gpt":0.2896683010499977,"score_spread":0.2421927440402942,"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."}}