{"id":"W4400419753","doi":"10.1038/s42003-024-06466-1","title":"Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly","year":2024,"lang":"en","type":"article","venue":"Communications Biology","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; Norges Forskningsråd; Technische Universität München; Bundesministerium für Bildung und Forschung; Australian Government; European Commission; Univerzita Karlova v Praze; Deutsche Forschungsgemeinschaft; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Microcephaly; Biology; Zebrafish; Neurite; Neuroscience; Axon guidance; Intellectual disability; Morphogenesis; Microtubule-associated protein; Microtubule; Nervous system; Neurodegeneration; Neural development; Axon; Cell biology; Genetics; Gene; Pathology; Medicine; Disease","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":[0.0001329551,0.0001250383,0.0001321953,0.00004333638,0.00008935991,0.0000156899,0.0004399311,0.0001443852,0.00002670693],"category_scores_gemma":[0.000108193,0.0001183052,0.00005307439,0.0001176569,0.0005819193,0.00000392859,0.0007895259,0.0001067251,0.00001030145],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001891419,"about_ca_system_score_gemma":0.000121214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006971616,"about_ca_topic_score_gemma":0.0002563524,"domain_scores_codex":[0.9991698,0.0001285306,0.0002476763,0.000278002,0.00002831247,0.0001477146],"domain_scores_gemma":[0.9992108,0.00007302743,0.00003747842,0.0005798328,0.00005523661,0.00004365021],"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":[0.00002498776,0.0001042126,0.003314246,0.00003408485,0.0001214097,7.277117e-7,0.0001482079,5.194945e-7,0.9891479,0.001264142,0.0003254228,0.005514156],"study_design_scores_gemma":[0.001204115,0.001172882,0.01472276,0.0001867817,0.0002437713,0.001115156,0.0006241286,0.002188241,0.6007522,0.001523737,0.3750986,0.001167614],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919792,0.005596398,0.001344927,0.0003589989,0.00004612383,0.0002254346,0.0001215821,0.0000155418,0.0003117709],"genre_scores_gemma":[0.9915681,0.00192178,0.005830359,0.00008327141,0.00002588944,0.00005807939,0.0003520237,0.00001672644,0.0001436934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3883957,"threshold_uncertainty_score":0.4824347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02505728580938487,"score_gpt":0.2866187765198986,"score_spread":0.2615614907105138,"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."}}