{"id":"W2966247017","doi":"10.1101/mcs.a003715","title":"<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation","year":2019,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"National Center for Advancing Translational Sciences; Office for People With Developmental Disabilities; National Institute of General Medical Sciences; JPB Foundation","keywords":"Retinitis pigmentosa; Neurodegeneration; Retinal degeneration; Genetic heterogeneity; Medicine; Pathology; Exome sequencing; Phenotype; Disease; Biology; Genetics; Retinal; Ophthalmology; Gene","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":[0.0003542016,0.001452551,0.0005074604,0.0009928539,0.001109627,0.0005571205,0.0006253356,0.00167805,0.001646925],"category_scores_gemma":[0.002118238,0.0006522596,0.0005605216,0.0005023836,0.001243437,0.0004540001,0.001259727,0.00115407,0.0004160873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006150251,"about_ca_system_score_gemma":0.0004677858,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002508116,"about_ca_topic_score_gemma":0.002326214,"domain_scores_codex":[0.9994816,0.00007310034,0.00006525556,0.0001737117,0.00009851952,0.0001078037],"domain_scores_gemma":[0.9991325,0.0002052035,0.0002614058,0.00005636044,0.00005994453,0.0002845983],"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":[0.00007871518,0.00005631886,0.01964801,0.00003194656,0.00002422801,0.9698205,0.0008208582,0.00007617283,0.007326388,0.0002087423,0.0001976432,0.001710403],"study_design_scores_gemma":[0.00002606406,0.0001919397,0.03132984,0.00001802712,0.00002741703,0.965108,0.0002705344,0.0002259352,0.001973914,0.0001580054,0.00065436,0.00001594824],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968097,0.0003123179,0.0007861508,0.0003248162,0.00004476578,0.00004653294,0.00008976176,0.00004252035,0.001543494],"genre_scores_gemma":[0.9985898,0.0001287956,0.0005101357,0.0001262411,0.00003338766,0.00001073704,0.00004661764,0.00001366089,0.0005406459],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002508116,"threshold_uncertainty_score":0.005509555,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02707316926275672,"score_gpt":0.3393613328974073,"score_spread":0.3122881636346506,"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."}}