{"id":"W4212815420","doi":"10.1212/wnl.0000000000200228","title":"Oculodentodigital Dysplasia","year":2022,"lang":"en","type":"article","venue":"Neurology","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Canadian Institutes of Health Research; MedDay Pharmaceuticals; Compute Canada; bluebird bio; Association Européenne contre les Leucodystrophies; McGill University; Alexion Pharmaceuticals","keywords":"Missense mutation; Dysplasia; Physical examination; Family history; Clinical history","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":[0.00008879138,0.001218983,0.0004327529,0.0008512712,0.001106981,0.0004176869,0.0002726717,0.0007126121,0.00186882],"category_scores_gemma":[0.0004665273,0.0002212094,0.0001998522,0.0007094269,0.000426032,0.0003056501,0.0005252981,0.0004283046,0.0004272565],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005470524,"about_ca_system_score_gemma":0.0004452424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002606287,"about_ca_topic_score_gemma":0.004077398,"domain_scores_codex":[0.9998817,0.000004915838,0.00001045104,0.00004601918,0.00002142088,0.00003532609],"domain_scores_gemma":[0.9998894,0.00001964495,0.000021167,0.000005586936,0.000009733119,0.00005438481],"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":[0.00006930823,0.00004813779,0.02807092,0.00005481274,0.00001202792,0.957298,0.0004183307,0.00005429208,0.006573773,0.000366799,0.0005773376,0.006456297],"study_design_scores_gemma":[0.00001375588,0.0001339119,0.04851259,0.00002830731,0.00002775869,0.9461914,0.0001853459,0.0001131185,0.001216255,0.0001855197,0.00338038,0.00001176467],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9852181,0.002741826,0.0004770488,0.0005576782,0.00006946889,0.00004886111,0.0004271176,0.00007045791,0.0103896],"genre_scores_gemma":[0.9961003,0.001185751,0.000370872,0.0002217181,0.00004697281,0.00001126271,0.0001359815,0.000009122853,0.001917904],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002606287,"threshold_uncertainty_score":0.006251812,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006536133987276888,"score_gpt":0.2160287653774787,"score_spread":0.2094926313902018,"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."}}