{"id":"W6958271580","doi":"10.60692/2a23f-mgc77","title":"Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder","year":2023,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Epilepsy; Autism spectrum disorder; Global developmental delay; Intellectual disability; Correlation; Cognition","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":[0.000189801,0.0004077449,0.0003284533,0.0007689678,0.0002359931,0.0002020585,0.0001818107,0.0003311548,0.002541133],"category_scores_gemma":[0.0009064629,0.0001060335,0.0001995428,0.0005361072,0.0001823953,0.0001488537,0.0002498454,0.0001760918,0.0002766808],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001061261,"about_ca_system_score_gemma":0.0001038047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005096581,"about_ca_topic_score_gemma":0.0006895228,"domain_scores_codex":[0.9997112,0.00004696131,0.00005638513,0.0001043745,0.00005439244,0.00002672472],"domain_scores_gemma":[0.9994919,0.0002662357,0.0001183111,0.00001834878,0.00004689494,0.00005821528],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000558733,0.00009432613,0.8524356,0.0001635386,0.0002147855,0.09008604,0.0003047124,0.0001915139,0.03824107,0.0001440803,0.0005923844,0.0169731],"study_design_scores_gemma":[0.00002846164,0.0002908325,0.828996,0.00002492028,0.000158276,0.1643467,0.0001655229,0.0004254763,0.004072617,0.0001221521,0.001354916,0.00001413095],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980038,0.0006862479,0.0003620493,0.00003395277,0.00001005898,0.00001128216,0.0002198555,0.00001206384,0.0006607029],"genre_scores_gemma":[0.9991592,0.0001787911,0.0002584185,0.00002597482,0.00001355979,0.000006967299,0.0001946531,0.000004552382,0.0001577891],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002541133,"threshold_uncertainty_score":0.008500934,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01394319726200996,"score_gpt":0.1884486497625769,"score_spread":0.1745054525005669,"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."}}