{"id":"W2029294762","doi":"10.1002/humu.21589","title":"Identification and characterization of novel rare mutations in the planar cell polarity gene<i>PRICKLE1</i>in human neural tube defects","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"Hippo pathway signaling and YAP/TAZ","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research","keywords":"Biology; Neural tube; Polarity (international relations); Identification (biology); Gene; Characterization (materials science); Genetics; Planar; Computational biology; Cell; Nanotechnology; Materials science; Computer science; Embryo","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001264126,0.0003833407,0.0003268986,0.0005941299,0.0002413016,0.0002817806,0.0002106849,0.0004398109,0.001080921],"category_scores_gemma":[0.0004746371,0.0001724193,0.0003095495,0.0002850868,0.0003034087,0.00009591144,0.0002392467,0.0002356673,0.0003203985],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001386817,"about_ca_system_score_gemma":0.0001236551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005288621,"about_ca_topic_score_gemma":0.0008298,"domain_scores_codex":[0.9998305,0.00001682185,0.00002656472,0.00006121617,0.00004217075,0.00002267423],"domain_scores_gemma":[0.9997953,0.00004739658,0.00007847166,0.00001977804,0.00001888719,0.00004029195],"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":[0.0009227896,0.000164351,0.1616135,0.0002382133,0.0002294146,0.08296724,0.0005564971,0.001079426,0.7246566,0.0006623663,0.0009896118,0.02591995],"study_design_scores_gemma":[0.000125927,0.0006451656,0.5440337,0.00005068867,0.0003907636,0.2753776,0.0002599926,0.003734787,0.1695122,0.0004111172,0.005406124,0.00005181753],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998372,0.000276433,0.000758182,0.000031916,0.000007445236,0.00001553213,0.0001752724,0.00002012074,0.0003431409],"genre_scores_gemma":[0.9988839,0.0001156866,0.000573214,0.00002789983,0.000007243111,0.000005400969,0.0001601443,0.000008380836,0.0002180294],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001080921,"threshold_uncertainty_score":0.003616095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02794258731264286,"score_gpt":0.2503772331867599,"score_spread":0.222434645874117,"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."}}