{"id":"W1795445644","doi":"10.1002/bdra.23305","title":"Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel <i>VANGL1</i> mutations","year":2014,"lang":"en","type":"article","venue":"Birth Defects Research Part A Clinical and Molecular Teratology","topic":"Hippo pathway signaling and YAP/TAZ","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Genetics; Mutation; Neural tube; Biology; Gene","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":[0.001152831,0.000750536,0.0007405303,0.006449954,0.0004048198,0.000936774,0.001110085,0.0007752916,0.001788509],"category_scores_gemma":[0.003335079,0.0002028974,0.0009548886,0.002783773,0.0007355721,0.0008324621,0.0006611031,0.0008137441,0.0005497398],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004180807,"about_ca_system_score_gemma":0.000886032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009451624,"about_ca_topic_score_gemma":0.001104734,"domain_scores_codex":[0.9990289,0.0001085098,0.0003473584,0.0002599476,0.000168156,0.00008706764],"domain_scores_gemma":[0.9977536,0.0007675343,0.0004900751,0.0001561466,0.0007021863,0.0001304452],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0007871611,0.0001720132,0.1070755,0.01669496,0.001071607,0.1164873,0.001450548,0.001372247,0.0507188,0.003061592,0.02246778,0.6786404],"study_design_scores_gemma":[0.0001303,0.0003678404,0.1383959,0.009523123,0.003911953,0.4850239,0.001253857,0.001778374,0.0348271,0.005427802,0.3191688,0.0001910725],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.2435006,0.720819,0.01273699,0.007173475,0.002479971,0.0002027866,0.003507325,0.0006497499,0.008930012],"genre_scores_gemma":[0.6274299,0.3402964,0.01527539,0.003938534,0.003260298,0.0001416881,0.007180098,0.0002155448,0.002262055],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.006449954,"threshold_uncertainty_score":0.00609684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05798515342182941,"score_gpt":0.3718147718163476,"score_spread":0.3138296183945182,"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."}}