{"id":"W2511959561","doi":"10.1002/ajmg.a.37929","title":"Phenotypic evolution of UNC80 loss of function","year":2016,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"National Human Genome Research Institute; Common Fund; National Institutes of Health; Child and Family Research Institute","keywords":"Failure to thrive; Loss function; Exome sequencing; Nonsense; Genetics; Phenotype; Gain of function; Biology; Nonsense mutation; Hereditary spastic paraplegia; Mutation; Gene; Missense mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000132281,0.0008375587,0.0003082887,0.0007356156,0.0005169171,0.000347424,0.0003807496,0.0006485988,0.002186989],"category_scores_gemma":[0.0008969637,0.0001693277,0.0002357399,0.0003435533,0.0005038009,0.0002761132,0.0007876202,0.0006114997,0.0007223912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003111662,"about_ca_system_score_gemma":0.0002633546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001289731,"about_ca_topic_score_gemma":0.001289762,"domain_scores_codex":[0.9998079,0.0000193186,0.00001758865,0.00006150385,0.00005706161,0.00003653723],"domain_scores_gemma":[0.999814,0.00003746585,0.00004503558,0.00001794661,0.00002648556,0.00005912345],"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":[0.0005991018,0.0002301818,0.06105503,0.00008135799,0.00008407106,0.5112965,0.00112487,0.0007367493,0.3833379,0.001380341,0.002556459,0.0375176],"study_design_scores_gemma":[0.00003349496,0.0003028184,0.1328204,0.00003130249,0.00006900817,0.8321403,0.0003102872,0.001345756,0.02791214,0.0006279009,0.004367433,0.00003923232],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924628,0.0003312597,0.001215799,0.0002493821,0.00002993948,0.00002197208,0.0002827554,0.0001058344,0.005300291],"genre_scores_gemma":[0.9965745,0.0001984164,0.0009175197,0.0001506209,0.00001492603,0.00001267872,0.0001960457,0.00005104159,0.001884351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002186989,"threshold_uncertainty_score":0.007316172,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02148998606653406,"score_gpt":0.2665032840377287,"score_spread":0.2450132979711946,"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."}}