{"id":"W2090830396","doi":"10.1038/ng.464","title":"Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy","year":2009,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":256,"is_retracted":false,"has_abstract":false,"ca_institutions":"Credit Valley Hospital","funders":"","keywords":"Biology; Dorsal root ganglion; Neuroscience; Sensory system; Golgi apparatus; Gene knockdown; Cell biology; Genetics; Apoptosis; Endoplasmic reticulum","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":[0.0001813762,0.002029704,0.0006740481,0.0008733269,0.0005445926,0.0003438911,0.0004855287,0.001996378,0.001607718],"category_scores_gemma":[0.0008926607,0.000348771,0.0004459806,0.0004854806,0.0009488916,0.0002636839,0.0005960347,0.0006749623,0.0006281653],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004261345,"about_ca_system_score_gemma":0.0002823871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002516107,"about_ca_topic_score_gemma":0.002517864,"domain_scores_codex":[0.9998065,0.00002652474,0.00002082844,0.00004448502,0.00006871122,0.00003286225],"domain_scores_gemma":[0.9994771,0.0001057653,0.0001742352,0.00001410395,0.00003407041,0.0001947417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001057255,0.0001370012,0.01226939,0.0002221583,0.0001829065,0.09278994,0.0002167957,0.0007352429,0.8803304,0.0006966403,0.002071044,0.009291138],"study_design_scores_gemma":[0.0009907562,0.001779076,0.2922507,0.0003564733,0.0007223429,0.4889349,0.0007276071,0.01093943,0.1799658,0.003135244,0.01980507,0.0003925505],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913556,0.001482486,0.00352023,0.0006237687,0.000252223,0.00004419946,0.0009167665,0.0002461146,0.001558665],"genre_scores_gemma":[0.9957328,0.0003319087,0.002394934,0.0001231419,0.00005073497,0.00001792677,0.0004865067,0.00006042085,0.0008015347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002516107,"threshold_uncertainty_score":0.005378366,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008315726229226907,"score_gpt":0.2343153630369029,"score_spread":0.225999636807676,"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."}}