{"id":"W2004087549","doi":"10.1006/mgme.2000.3001","title":"Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease","year":2000,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":162,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital","funders":"National Eye Institute","keywords":"Genetics; Retinitis pigmentosa; Biology; Retinal degeneration; Genetic heterogeneity; Proband; Dystrophy; GUCY2D; Retinal; Compound heterozygosity; Mutation; Gene; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000914229,0.0001372942,0.0001263691,0.00005634711,0.00003471853,0.0000134976,0.0001039961,0.00006370719,0.00006375468],"category_scores_gemma":[0.00003330824,0.0001395746,0.00005062441,0.0001260596,0.0001121813,0.000002978427,0.00004259405,0.00005052769,0.000002377838],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002443066,"about_ca_system_score_gemma":0.00006830037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009522251,"about_ca_topic_score_gemma":0.000005928103,"domain_scores_codex":[0.9991187,0.00007338973,0.0002210737,0.0002853926,0.0001278031,0.0001736527],"domain_scores_gemma":[0.9996016,0.00000335237,0.00004444217,0.0001877615,0.00005893121,0.0001038971],"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":[0.0002944218,0.0001979077,0.05643718,0.0001290229,0.00006491486,0.00002890742,0.0003832541,0.00152918,0.9167738,0.0009506618,0.0001765529,0.02303417],"study_design_scores_gemma":[0.00113048,0.00008457604,0.8207433,0.00003374965,0.00007851806,0.000005328665,0.00004620197,0.0003752762,0.1598452,0.001072457,0.01623557,0.0003493537],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9823328,0.0159353,0.0004627845,0.0001115012,0.00003066226,0.0001853313,0.00002366408,0.000003689836,0.000914257],"genre_scores_gemma":[0.9921108,0.004679432,0.00231656,0.0001775667,0.00002292439,0.00002705608,0.00006408207,0.00001552623,0.0005860438],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7643061,"threshold_uncertainty_score":0.5691686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005580241600149908,"score_gpt":0.2318250378038454,"score_spread":0.2262447962036955,"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."}}