{"id":"W2279683159","doi":"10.1093/hmg/ddw022","title":"Mutations in<i>POMGNT1</i>cause non-syndromic retinitis pigmentosa","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Center for Research Resources; National Eye Institute; Mizutani Foundation for Glycoscience; Canadian Institutes of Health Research; Japan Society for the Promotion of Science; Natural Science Foundation of Beijing Municipality; National Natural Science Foundation of China; Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Biology; Genetics; Mutation; Mutant; Gene; Allele; Glycosylation; Degenerative disease; Central nervous system disease; Neuroscience","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001260694,0.0002229391,0.0001662736,0.0001321854,0.00008608695,0.0000250708,0.0002257566,0.0001974017,0.0001380745],"category_scores_gemma":[0.00001550591,0.0002065539,0.0001294189,0.00012421,0.0001348087,0.000004132747,0.00006291017,0.00008235004,0.0000611797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002644159,"about_ca_system_score_gemma":0.00005606381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001117936,"about_ca_topic_score_gemma":0.00009419967,"domain_scores_codex":[0.9985777,0.00005718065,0.0003442914,0.0004703585,0.0001922532,0.0003581973],"domain_scores_gemma":[0.999203,0.000006223521,0.00007950751,0.0005300476,0.00006540363,0.0001158007],"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":[0.0000167832,0.00006347505,0.009122149,0.00001051553,0.00003530581,0.00009097745,0.0000610045,0.00005004498,0.9896939,0.0002252176,0.00006612375,0.0005644499],"study_design_scores_gemma":[0.002807584,0.0005194689,0.08570293,0.00009816323,0.00008894857,0.00006110291,0.00005392675,0.00004018121,0.883139,0.001336454,0.02540571,0.0007464999],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9570658,0.0005289359,0.04021784,0.0001045014,0.00009835065,0.0002630122,0.00002477823,0.00001749861,0.001679329],"genre_scores_gemma":[0.9968988,0.0003821198,0.0006330602,0.0001634509,0.00009245839,0.00003996302,0.001089256,0.00005521422,0.0006456487],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1065549,"threshold_uncertainty_score":0.8423023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01270409098475928,"score_gpt":0.2466193011164518,"score_spread":0.2339152101316925,"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."}}