{"id":"W3082876695","doi":"10.1038/s41436-020-00950-9","title":"DOORS syndrome and a recurrent truncating ATP6V1B2 variant","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Doors; Medicine; Genetics; Biology; Computer science","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003678411,0.002789487,0.001401177,0.001936949,0.001255672,0.001377398,0.001753194,0.006571399,0.007426288],"category_scores_gemma":[0.003217362,0.0006680507,0.001013696,0.001769223,0.002082668,0.0009448121,0.001854954,0.002194634,0.001172438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005985395,"about_ca_system_score_gemma":0.0007581862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001980186,"about_ca_topic_score_gemma":0.001398899,"domain_scores_codex":[0.9990984,0.0001125453,0.0001027558,0.000288339,0.0002074245,0.0001905101],"domain_scores_gemma":[0.9981894,0.0007599561,0.0003895053,0.00009124588,0.00007843766,0.0004914787],"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":[0.0002642006,0.00004959896,0.003766287,0.00006114139,0.0000937853,0.9755702,0.0001366237,0.0002298177,0.01532756,0.001225016,0.0006676088,0.002608237],"study_design_scores_gemma":[0.0001342978,0.0001354894,0.01011747,0.0000469855,0.0001511114,0.9793256,0.0001603038,0.0009394448,0.004186991,0.002036552,0.002715873,0.00004986687],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9736837,0.003686583,0.004604721,0.003724572,0.0009780226,0.00007586064,0.001825654,0.0004176425,0.01100327],"genre_scores_gemma":[0.9938931,0.0004353484,0.001995025,0.0004462878,0.0003982007,0.00001979262,0.0002822842,0.00007203861,0.002457851],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007426288,"threshold_uncertainty_score":0.02484339,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01814408430881237,"score_gpt":0.2612139920074235,"score_spread":0.2430699076986111,"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."}}