{"id":"W2027829556","doi":"10.1038/ncomms6614","title":"Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness","year":2015,"lang":"en","type":"article","venue":"Nature Communications","topic":"Venomous Animal Envenomation and Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Ottawa; Royal Alexandra Hospital; Université de Montréal; University of Alberta; Children's Hospital of Eastern Ontario; McGill University; McGill University Health Centre; Montreal Clinical Research Institute; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre","funders":"National Institute of Neurological Disorders and Stroke; National Eye Institute; European Regional Development Fund; Medical Research Council; Canadian Institutes of Health Research; University of Toronto; Ontario Genomics Institute; Genome British Columbia; Government of Canada; Wellcome Trust; National Institutes of Health; Foundation Fighting Blindness; Ontario Genomics; Genome Canada; University of Ottawa; McGill University; Ministerstvo Zdravotnictví Ceské Republiky; Univerzita Karlova v Praze","keywords":"Retinal degeneration; Hereditary spastic paraplegia; Biology; Photoreceptor cell; Retinitis pigmentosa; Degeneration (medical); Mutation; Cell biology; Genetics; Retina; Neuroscience; Medicine; Pathology; Gene; Phenotype","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":[0.0001315935,0.00007275503,0.0001051196,0.00007125128,0.0000843766,0.00001225853,0.0002127685,0.0001469197,0.000001582141],"category_scores_gemma":[0.0002477787,0.00006921186,0.00002285726,0.0001583405,0.00005082931,0.000005658015,0.000167929,0.0001452983,0.000002492409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001346547,"about_ca_system_score_gemma":0.00005962715,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001421708,"about_ca_topic_score_gemma":0.002093255,"domain_scores_codex":[0.9995191,0.00004450238,0.0001692179,0.0001218815,0.00006828429,0.00007703237],"domain_scores_gemma":[0.9992606,0.00001521624,0.00007422351,0.0004079852,0.0001828249,0.00005915726],"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":[0.0004354933,0.004710732,0.1607244,0.0001222231,0.0005641656,0.000002595307,0.02848046,0.003667531,0.7225435,0.04750346,0.01556065,0.01568478],"study_design_scores_gemma":[0.004843872,0.00136786,0.6990508,0.0001238126,0.0001317919,0.00003840198,0.007901541,0.002368278,0.05805727,0.001749047,0.2233542,0.001013081],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919169,0.004476981,0.0002324971,0.001592353,0.00005299236,0.0002940072,0.00005112784,0.000009807354,0.001373315],"genre_scores_gemma":[0.9954302,0.0002076761,0.003683852,0.0002924988,0.0000257403,0.00005777671,0.0002220742,0.000008413335,0.00007173827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6644862,"threshold_uncertainty_score":0.2822378,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02155228155178377,"score_gpt":0.2923416416902081,"score_spread":0.2707893601384243,"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."}}