{"id":"W4229849900","doi":"10.1111/j.1755-3768.2015.1628","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":[0.0005268111,0.00196032,0.00109275,0.001810269,0.002217918,0.0008546746,0.0008744593,0.002607434,0.003533276],"category_scores_gemma":[0.00430295,0.001204711,0.0009929115,0.0008134487,0.001324893,0.0007833484,0.001983837,0.002254818,0.0007771757],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001005648,"about_ca_system_score_gemma":0.0007603546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004127934,"about_ca_topic_score_gemma":0.002727399,"domain_scores_codex":[0.9988874,0.000116422,0.000134125,0.0003248584,0.0002827872,0.000254513],"domain_scores_gemma":[0.9984333,0.0003652085,0.000364643,0.0001305689,0.0001362946,0.0005699362],"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":[0.0001645531,0.0002361938,0.05306755,0.00006850073,0.00004159426,0.9346705,0.001842588,0.00005680118,0.004335213,0.0004113232,0.0005024137,0.004602809],"study_design_scores_gemma":[0.00005489383,0.0002510438,0.03200449,0.00002723463,0.00003914844,0.9643297,0.0005805237,0.0001533215,0.001107826,0.000282891,0.001148937,0.0000199821],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942772,0.0008811911,0.0007807527,0.0008135664,0.000283271,0.0001055793,0.0002282705,0.0000430677,0.002587039],"genre_scores_gemma":[0.9960285,0.0003912243,0.0007471901,0.0005996145,0.0001736513,0.00003353653,0.0001146887,0.00002265724,0.001888846],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004127934,"threshold_uncertainty_score":0.01181996,"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."}}