{"id":"W1589042524","doi":"10.1038/85817","title":"SPTLC1 is mutated in hereditary sensory neuropathy, type 1","year":2001,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":293,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto Western Hospital","funders":"","keywords":"Biology; Genetics; Locus (genetics); Sensory neuropathy; Gene; Sensory system; Dorsum; Anatomy; Neuroscience; Internal medicine; Medicine","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":[0.0001765664,0.001082882,0.0005537848,0.001404806,0.0008880156,0.0004602541,0.0008960278,0.002054641,0.004556308],"category_scores_gemma":[0.001070351,0.0002166828,0.0003911393,0.0008789314,0.0007640262,0.0003083193,0.000536994,0.0007774348,0.0007588599],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006173386,"about_ca_system_score_gemma":0.0003827302,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004107052,"about_ca_topic_score_gemma":0.003059626,"domain_scores_codex":[0.999774,0.00001913817,0.00002626664,0.00006070514,0.00007968072,0.00004018921],"domain_scores_gemma":[0.9994264,0.0001930901,0.0001602162,0.00002145478,0.00006600702,0.0001328297],"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":[0.003025462,0.0002981207,0.05317353,0.0005919583,0.000293328,0.3929454,0.001018934,0.002352923,0.502933,0.002432593,0.007372021,0.0335627],"study_design_scores_gemma":[0.0005512145,0.0007256799,0.2364339,0.0003165225,0.0007492247,0.5304211,0.0009075974,0.01060958,0.2029827,0.003515221,0.01259535,0.0001919073],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920841,0.001027242,0.001261409,0.0004634466,0.0001307519,0.00003315866,0.0008667518,0.0001712728,0.003961777],"genre_scores_gemma":[0.9975387,0.0001811197,0.0006862795,0.00009153456,0.00005030098,0.00001055551,0.000337845,0.00003768735,0.001065926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004556308,"threshold_uncertainty_score":0.01524234,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02978553828112258,"score_gpt":0.2801146467568478,"score_spread":0.2503291084757252,"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."}}