{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009092355,0.0002376196,0.0001971185,0.0001334403,0.00006426569,0.00002638165,0.0004501408,0.0004286748,0.0004184539],"category_scores_gemma":[0.0008525914,0.0002214213,0.00005904055,0.0009764697,0.000125662,0.00007218507,0.0001250124,0.00125909,0.0003956149],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002272856,"about_ca_system_score_gemma":0.00004785253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006650935,"about_ca_topic_score_gemma":0.00002016515,"domain_scores_codex":[0.9979011,0.000226381,0.0002727163,0.0006711529,0.0004124288,0.0005162414],"domain_scores_gemma":[0.9991212,0.000192572,0.00005428289,0.0004389599,0.00005142614,0.0001414844],"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":[0.00114298,0.001585301,0.1218461,0.00008794785,0.00002016118,0.03721429,0.001133109,0.005501357,0.7199026,0.0004352231,0.07303875,0.03809224],"study_design_scores_gemma":[0.003540663,0.002299635,0.3244029,0.00004478788,0.00004957697,0.001846501,0.0001548836,0.01864173,0.2392095,0.01052311,0.3973007,0.001986069],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857273,0.0008939428,0.000004559143,0.001654094,0.001566981,0.0002466106,0.00002862538,0.0001456925,0.00973217],"genre_scores_gemma":[0.9782566,0.0009639632,0.0001440946,0.01989209,0.0002261624,0.000003509376,0.000005684465,0.0000410847,0.0004668266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4806931,"threshold_uncertainty_score":0.9029301,"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."}}