{"id":"W4394618940","doi":"10.1080/13816810.2024.2337879","title":"Broadening the ocular phenotypic spectrum of ultra-rare <i>BRPF1</i> variants: report of two cases","year":2024,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministry of Health, British Columbia","keywords":"Strabismus; Genetics; Phenotype; Aniridia; Epigenetics; Gene; Ptosis; Biology; Medicine; Ophthalmology; Anatomy","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004062815,0.002152796,0.0008284758,0.002474491,0.001347068,0.001478383,0.001164716,0.002668455,0.002177207],"category_scores_gemma":[0.001779311,0.0009380155,0.000829385,0.001333159,0.002263608,0.0007791704,0.00207714,0.001310494,0.0007551947],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006108715,"about_ca_system_score_gemma":0.0003761893,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00209903,"about_ca_topic_score_gemma":0.001600682,"domain_scores_codex":[0.9988422,0.00009715329,0.0001061298,0.0004398542,0.0001430367,0.0003716875],"domain_scores_gemma":[0.9986213,0.0003523551,0.0003239018,0.0002375019,0.0001073818,0.0003574839],"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":[0.0001002515,0.00008028622,0.03145128,0.00006549978,0.00003788194,0.9539374,0.0004958492,0.0001174254,0.007250777,0.0003003325,0.000533424,0.005629577],"study_design_scores_gemma":[0.00001537243,0.00004908925,0.0157898,0.00001091832,0.00002410808,0.9822286,0.00009509522,0.0001220125,0.0009777339,0.0001318863,0.0005405248,0.00001478994],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990554,0.001609435,0.002598173,0.0003686679,0.00006657676,0.0001088803,0.0002304453,0.000140655,0.004323146],"genre_scores_gemma":[0.9976173,0.0005110579,0.0008407311,0.0001480178,0.0001684079,0.00002643745,0.0001291988,0.00003086951,0.0005278516],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002668455,"threshold_uncertainty_score":0.007283509,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01297793460719478,"score_gpt":0.2585991747241805,"score_spread":0.2456212401169858,"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."}}