{"id":"W2950699841","doi":"10.1016/j.ajhg.2010.01.002","title":"Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa","year":2010,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"National Eye Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Research to Prevent Blindness; King Khaled Eye Specialist Hospital; Foundation Fighting Blindness","keywords":"Blindness; Retinitis pigmentosa; Library science; Medicine; Political science; Family medicine; Ophthalmology; Psychology; Optometry; Retinal","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002201886,0.001449904,0.0005025517,0.001353009,0.0006252758,0.000513028,0.0006574829,0.002084694,0.003466351],"category_scores_gemma":[0.00110155,0.0004173275,0.0007066642,0.0006366267,0.001090541,0.000326726,0.000740746,0.0008030484,0.001272292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005320939,"about_ca_system_score_gemma":0.0004921218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001769012,"about_ca_topic_score_gemma":0.00275308,"domain_scores_codex":[0.9996414,0.00005947481,0.00005780593,0.00005915238,0.0001305161,0.00005166394],"domain_scores_gemma":[0.9990155,0.0003096873,0.0003126331,0.00004606731,0.0000650105,0.0002510966],"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":[0.001683578,0.0002166712,0.04301835,0.0001988637,0.0004429246,0.3084656,0.0006575054,0.001360397,0.6257055,0.003169107,0.003179288,0.01190227],"study_design_scores_gemma":[0.0006154344,0.0007832446,0.2178989,0.00013076,0.0009991108,0.5241461,0.001411599,0.01204898,0.2199603,0.004078502,0.01771995,0.0002070141],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941234,0.0006274729,0.001386515,0.0005480494,0.0001931184,0.00002082298,0.0004144743,0.0001945662,0.002491555],"genre_scores_gemma":[0.9970703,0.00019638,0.0009416822,0.000120823,0.00009658232,0.00001425463,0.0002580768,0.00006312609,0.001238616],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003466351,"threshold_uncertainty_score":0.01159608,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009407872473737929,"score_gpt":0.2624562162748346,"score_spread":0.2530483438010966,"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."}}