{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000150821,0.0007542328,0.000209491,0.000857269,0.0004148204,0.0002079218,0.0001636887,0.0004731294,0.003517699],"category_scores_gemma":[0.0003874649,0.0001601517,0.0002941276,0.0003229225,0.0003679272,0.0002087847,0.0004490619,0.0003916204,0.0004269125],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002574963,"about_ca_system_score_gemma":0.0001361186,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009763761,"about_ca_topic_score_gemma":0.001258476,"domain_scores_codex":[0.9998739,0.00001718981,0.00001364162,0.00003052305,0.00004459834,0.00002017924],"domain_scores_gemma":[0.999775,0.00004072139,0.00009708742,0.00000907847,0.00002671763,0.00005138577],"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":[0.001217649,0.0001685133,0.1012351,0.0005386957,0.0003563823,0.07752609,0.001172711,0.0009152815,0.7522302,0.002426017,0.002434639,0.05977877],"study_design_scores_gemma":[0.00009741675,0.0007658071,0.4231715,0.0002188823,0.000359127,0.2789714,0.0006599929,0.001277424,0.2587861,0.001552008,0.03408419,0.00005620585],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887961,0.00251419,0.003311685,0.0004513951,0.00006742526,0.00002494633,0.0005558947,0.000176805,0.004101497],"genre_scores_gemma":[0.9916049,0.001822695,0.001816384,0.0001136989,0.00002508425,0.00000989675,0.0003921596,0.00002052225,0.004194628],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003517699,"threshold_uncertainty_score":0.01176786,"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."}}