{"id":"W6958264287","doi":"10.60692/9pg9j-vsv28","title":"Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies","year":2021,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Axon Guidance and Neuronal Signaling","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Medical Research Council","keywords":"Zebrafish; Phenotype; Neurodevelopmental disorder; Missense mutation; Allele; Embryonic stem cell; Morpholino; Gene knockdown","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":[0.0001096023,0.001073102,0.0003289071,0.0008420047,0.0004034921,0.0003148684,0.0002888947,0.000501634,0.008157568],"category_scores_gemma":[0.0003035293,0.0001606698,0.0002456715,0.0005172099,0.0003464347,0.0002685082,0.0004063763,0.0002660326,0.0008027649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002621938,"about_ca_system_score_gemma":0.0002598228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008880851,"about_ca_topic_score_gemma":0.001361058,"domain_scores_codex":[0.9998172,0.00002397822,0.00002521433,0.00008171981,0.00003471797,0.00001721855],"domain_scores_gemma":[0.9998507,0.00004921496,0.00005384871,0.000008563246,0.000006837229,0.00003082931],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001653727,0.0002229776,0.1874736,0.0007650063,0.0003058119,0.0942594,0.0009785253,0.002022318,0.6325,0.002170459,0.002442116,0.0752062],"study_design_scores_gemma":[0.0001506022,0.0006731395,0.6069812,0.0002332342,0.0005392398,0.2686849,0.0006306556,0.003252884,0.09386403,0.001488393,0.02341124,0.00009050686],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907622,0.001721834,0.003342178,0.0002718257,0.00002148886,0.00003895473,0.001786926,0.00009110526,0.001963525],"genre_scores_gemma":[0.9910204,0.001150777,0.003948465,0.00008905638,0.00002835256,0.00003780318,0.001592556,0.00002862397,0.002103986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008157568,"threshold_uncertainty_score":0.02728981,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0329769976524722,"score_gpt":0.2117873259458036,"score_spread":0.1788103282933314,"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."}}