{"id":"W2999447367","doi":"10.1097/mcd.0000000000000313","title":"Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion","year":2020,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Pediatric Oncology Group","funders":"","keywords":"Haploinsufficiency; Microcephaly; Medicine; Chromosomal Abnormality; Penetrance; Intellectual disability; Corpus callosum; AKT3; Microdeletion syndrome; Genetics; Gene; Phenotype; Abnormality; Chromosome; Pediatrics; Pathology; Biology; Karyotype","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":[0.0001327914,0.0008642124,0.0003577261,0.0008760873,0.0008124773,0.0002811007,0.00032831,0.0009334988,0.001588483],"category_scores_gemma":[0.0008570676,0.0003674412,0.0002588935,0.0004340308,0.0007580236,0.000229635,0.0003962407,0.0006579956,0.000230926],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002902361,"about_ca_system_score_gemma":0.0003963348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002413557,"about_ca_topic_score_gemma":0.002375277,"domain_scores_codex":[0.9998298,0.00001897635,0.00001684675,0.00005715173,0.00003527523,0.00004203124],"domain_scores_gemma":[0.9996759,0.0001423655,0.00007271935,0.00001029061,0.00001378249,0.00008500619],"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":[0.000152547,0.00006608542,0.03463517,0.0000433043,0.00002636429,0.9167016,0.0007034263,0.0003569302,0.04352643,0.000280718,0.0002182668,0.003289131],"study_design_scores_gemma":[0.00005196445,0.0004066969,0.1006783,0.00001863507,0.00007646144,0.8819681,0.0003149739,0.001116405,0.013847,0.0002422919,0.001247696,0.00003132589],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988444,0.0001672824,0.0003019676,0.0001276569,0.00001365794,0.00001530821,0.00007841154,0.00001860274,0.0004325451],"genre_scores_gemma":[0.9990171,0.0001257177,0.0003287072,0.00005030468,0.00002060711,0.000006358158,0.00005177466,0.000007508199,0.0003919298],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002413557,"threshold_uncertainty_score":0.005314052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01956842899429687,"score_gpt":0.2634962516822951,"score_spread":0.2439278226879982,"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."}}