{"id":"W2148347125","doi":"10.1002/bdra.23157","title":"Rare missense variants in <i>DVL1</i>, one of the human counterparts of the <i>Drosophila dishevelled</i> gene, do not confer increased risk for neural tube defects","year":2013,"lang":"en","type":"article","venue":"Birth Defects Research Part A Clinical and Molecular Teratology","topic":"Wnt/β-catenin signaling in development and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Dishevelled; Neural tube; Missense mutation; Wnt signaling pathway; Biology; Genetics; Gene; Frizzled; Endocrinology; Bioinformatics; Mutation","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":[0.0002458141,0.0006616388,0.0004859146,0.0006799404,0.0003800883,0.0003548089,0.0003996704,0.0007484476,0.003458339],"category_scores_gemma":[0.001092614,0.0001437651,0.0005532844,0.0005971919,0.0004057414,0.000127868,0.0002304669,0.0003872287,0.0005067741],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001955398,"about_ca_system_score_gemma":0.0001737201,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001250038,"about_ca_topic_score_gemma":0.001182405,"domain_scores_codex":[0.9996949,0.00004395472,0.00005006333,0.0001170503,0.00006601727,0.00002804444],"domain_scores_gemma":[0.9993709,0.0001862333,0.0002805409,0.0000389441,0.00003269445,0.00009077479],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002613114,0.0002054266,0.8359486,0.0002105922,0.001003518,0.01623474,0.0002514713,0.001250219,0.1258503,0.0004252777,0.0008069598,0.0151999],"study_design_scores_gemma":[0.0001862445,0.0006152827,0.9226951,0.00005974275,0.0007989688,0.05003831,0.0002045357,0.00363798,0.01816479,0.0004410268,0.003109493,0.00004835431],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976774,0.0003898084,0.0006631525,0.00003889279,0.00001626621,0.00001008329,0.0006787356,0.00002426983,0.000501369],"genre_scores_gemma":[0.9987005,0.00008643022,0.0004378118,0.00002077063,0.00001373274,0.000005943081,0.0005692144,0.000009485593,0.0001560734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003458339,"threshold_uncertainty_score":0.01156932,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04464224412252051,"score_gpt":0.3359382422397316,"score_spread":0.2912959981172111,"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."}}