{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001013825,0.00106274,0.000303492,0.0006688027,0.0004813826,0.0002448607,0.0002845443,0.0003650748,0.001493296],"category_scores_gemma":[0.0004180665,0.0001607574,0.0002497211,0.0003760366,0.0006113686,0.0001868094,0.0005515247,0.0003631794,0.0002073971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002335465,"about_ca_system_score_gemma":0.0002773836,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001714039,"about_ca_topic_score_gemma":0.002741315,"domain_scores_codex":[0.9998003,0.00001810771,0.00002523471,0.00006570877,0.00005926151,0.00003141238],"domain_scores_gemma":[0.9998281,0.00003686604,0.0000706689,0.00001000632,0.0000132198,0.00004114547],"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":[0.0005434687,0.00008329453,0.05762309,0.000123911,0.0001931996,0.03138233,0.0004090986,0.0007058838,0.888662,0.001078029,0.000566533,0.01862913],"study_design_scores_gemma":[0.0001214882,0.0007875384,0.4936524,0.00007788864,0.0004355372,0.2747983,0.000790704,0.003066903,0.2154516,0.002112211,0.008592134,0.0001131992],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996363,0.0004140366,0.001770082,0.00006116366,0.00001485762,0.00001143724,0.0004106173,0.00006405423,0.0008907712],"genre_scores_gemma":[0.9975463,0.000277428,0.001013462,0.00003435175,0.00001070294,0.000007124433,0.0003082796,0.00001878177,0.0007834994],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001714039,"threshold_uncertainty_score":0.004995584,"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."}}