{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001994566,0.0001037168,0.0001521221,0.00009033556,0.00003912811,0.0000138607,0.0003054972,0.00008034105,0.00005147333],"category_scores_gemma":[0.000134556,0.0001026782,0.00001393416,0.0001547009,0.00009638318,0.000003981882,0.0003779884,0.00008645454,0.000002909243],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001937522,"about_ca_system_score_gemma":0.00007778946,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001290029,"about_ca_topic_score_gemma":0.0001472909,"domain_scores_codex":[0.9991693,0.00004353495,0.000280165,0.0003201509,0.00006966697,0.0001171877],"domain_scores_gemma":[0.9994648,0.00001358582,0.00008431786,0.0003095846,0.00009799637,0.00002970431],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005905789,0.00004066738,0.007111314,0.00004011888,0.00002017603,5.429508e-7,0.0001067969,0.0000153089,0.9746386,0.00009783065,0.005986778,0.01188283],"study_design_scores_gemma":[0.002152588,0.0003905467,0.1656963,0.0003833265,0.00004283852,0.00001710801,0.0003738327,0.0001448356,0.7172688,0.0009122585,0.1123561,0.0002614854],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895738,0.002493865,0.001280183,0.00143107,0.0001853927,0.0006555971,0.00001410554,0.000003947572,0.004361995],"genre_scores_gemma":[0.9916855,0.0009674612,0.005326481,0.000647169,0.00006224296,0.00006906025,0.0001677513,0.00001315502,0.001061255],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2573698,"threshold_uncertainty_score":0.4187097,"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."}}