{"id":"W4307629427","doi":"10.7759/cureus.30774","title":"Homozygous UNC13A Variant in an Infant With Congenital Encephalopathy and Severe Neuromuscular Phenotype: A Case Report With Detailed Central Nervous System Neuropathologic Findings","year":2022,"lang":"en","type":"article","venue":"Cureus","topic":"Genetics, Aging, and Longevity in Model Organisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"Brown University","keywords":"Central nervous system; Medicine; Neuroscience; Neuromuscular junction; Phenotype; Synaptic vesicle; Synapse; Nervous system; Encephalopathy; Biology; Vesicle; Internal medicine; Genetics","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":[0.0004051464,0.002377803,0.001812935,0.00305333,0.002063408,0.001225194,0.001180103,0.004059827,0.001636066],"category_scores_gemma":[0.002008958,0.001655125,0.001054179,0.001297398,0.001830475,0.001339994,0.002076794,0.002960013,0.0004186799],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001243045,"about_ca_system_score_gemma":0.0008235469,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003002301,"about_ca_topic_score_gemma":0.004177927,"domain_scores_codex":[0.999106,0.00007006482,0.00009590564,0.0002941679,0.000160239,0.0002736366],"domain_scores_gemma":[0.9985328,0.0003376339,0.0003441852,0.0001048583,0.00009942101,0.000581219],"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":[0.0000132882,0.00002076549,0.001844179,0.00001375635,0.000005032865,0.9967705,0.0001092245,0.00002713292,0.0004940252,0.00008862661,0.0001094482,0.0005040794],"study_design_scores_gemma":[0.000003810733,0.00004148979,0.003092129,0.000007478521,0.00001049778,0.996145,0.0000496635,0.00009045332,0.0002992169,0.00005514481,0.0001945553,0.00001046764],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862709,0.003527264,0.003436555,0.001507345,0.0002923771,0.0001378115,0.0002705026,0.0002184468,0.004338726],"genre_scores_gemma":[0.993579,0.001649007,0.001908174,0.0004787155,0.0004448463,0.00003928037,0.0001085673,0.00004948561,0.001742894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004059827,"threshold_uncertainty_score":0.009018958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006592902730966699,"score_gpt":0.1959542994220831,"score_spread":0.1893613966911164,"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."}}