{"id":"W2209053743","doi":"10.1111/j.1755-3768.2015.0628","title":"Two Sisters with Congenital Blindness caused by Osteoporosis‐pseudoglioma Syndrome due to new Mutations in the <scp>LPR</scp>5 Gene","year":2015,"lang":"en","type":"article","venue":"Acta Ophthalmologica","topic":"Cell Adhesion Molecules Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia; Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Blindness; Medicine; Osteoporosis; Pediatrics; Genetics; Internal medicine; Biology; Optometry","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":[0.0005014983,0.001830957,0.001023711,0.001704243,0.002123184,0.0008362063,0.0008287276,0.002456129,0.003489557],"category_scores_gemma":[0.004132853,0.001170861,0.0009340254,0.0007721158,0.001266365,0.0007483859,0.001902198,0.002156699,0.0007675955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009644616,"about_ca_system_score_gemma":0.0007328204,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003863362,"about_ca_topic_score_gemma":0.002650695,"domain_scores_codex":[0.9989555,0.000110041,0.0001260977,0.0003015321,0.0002665639,0.0002402406],"domain_scores_gemma":[0.9985521,0.0003306587,0.0003487054,0.0001227919,0.0001271099,0.0005186552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000164814,0.0002328583,0.05633987,0.00006995755,0.00004279695,0.9310545,0.001827079,0.00005441004,0.004419575,0.0004090135,0.00052374,0.004861413],"study_design_scores_gemma":[0.0000547177,0.0002437165,0.03271087,0.0000273715,0.00003926369,0.9635899,0.0005734057,0.0001406861,0.001098541,0.0002829373,0.001219382,0.00001918766],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943935,0.0009072828,0.0007294746,0.0007742415,0.0002678417,0.00009879542,0.0002175533,0.00004072452,0.002570655],"genre_scores_gemma":[0.996073,0.0003981788,0.0007056427,0.0005830095,0.0001649215,0.00003274696,0.0001147175,0.00002161835,0.001906192],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003863362,"threshold_uncertainty_score":0.01167375,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05692548257879666,"score_gpt":0.32422277663149,"score_spread":0.2672972940526934,"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."}}