{"id":"W4408532067","doi":"10.1016/j.gimo.2025.102341","title":"P376: Microdeletion and microduplication of 15q11.2-q13 share a neurodevelopmental phenotype","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"14-3-3 protein interactions","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Western University","funders":"","keywords":"Phenotype; Genetics; Microdeletion syndrome; Medicine; Biology; 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":[0.0004770431,0.001256473,0.0008478432,0.002668469,0.001155824,0.0007920781,0.001010989,0.001877038,0.008018283],"category_scores_gemma":[0.002010098,0.0003866549,0.001132271,0.00172165,0.001408208,0.0004180592,0.001849926,0.0009664186,0.00107615],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005447837,"about_ca_system_score_gemma":0.0007330473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005907382,"about_ca_topic_score_gemma":0.005763079,"domain_scores_codex":[0.9985144,0.0001193402,0.0001480919,0.0007082528,0.0003503726,0.0001595781],"domain_scores_gemma":[0.9991321,0.0002741435,0.0002265609,0.0001109549,0.00007147273,0.0001848369],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001536351,0.0006030854,0.2632979,0.0008407214,0.0008545499,0.4331456,0.004359185,0.002419804,0.1811206,0.005278157,0.007777705,0.09876631],"study_design_scores_gemma":[0.0001451526,0.0008319161,0.3408809,0.0003702052,0.0007477501,0.5638405,0.0008650823,0.0009975784,0.04913194,0.002448257,0.03960772,0.0001330717],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9679846,0.003946404,0.009829697,0.001183834,0.0003162478,0.0004340038,0.007310166,0.0004602003,0.008534848],"genre_scores_gemma":[0.975298,0.002811522,0.009451346,0.0006518827,0.0001236814,0.000297416,0.006655113,0.0001507901,0.004560289],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008018283,"threshold_uncertainty_score":0.02682382,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01654269041971566,"score_gpt":0.3307622545402037,"score_spread":0.314219564120488,"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."}}