{"id":"W1978395865","doi":"10.1002/humu.20819","title":"Identification of 34 novel and 56 known<i>FOXL2</i>mutations in patients with blepharophimosis syndrome","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Blood groups and transfusion","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Vlaamse regering; Universiteit Gent; Fonds Wetenschappelijk Onderzoek","keywords":"Blepharophimosis; Biology; Identification (biology); Genetics; Computational biology; Ptosis; Botany","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":[0.000247846,0.0007495696,0.0004646772,0.001004603,0.0004326596,0.0004054406,0.0002798268,0.0006148316,0.001541726],"category_scores_gemma":[0.001220262,0.0002987347,0.0002964824,0.0005231662,0.0005318332,0.0003055015,0.0003709064,0.0002647604,0.0003224187],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002576841,"about_ca_system_score_gemma":0.0001133052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004497532,"about_ca_topic_score_gemma":0.0004761138,"domain_scores_codex":[0.9996791,0.00003572987,0.00005268098,0.00009354126,0.00007266004,0.00006631791],"domain_scores_gemma":[0.9996437,0.000108048,0.0001090689,0.00002712697,0.00002545171,0.00008658407],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001106842,0.000160974,0.7999431,0.0001181223,0.0001774164,0.0609049,0.001693554,0.0003769507,0.1074368,0.0003463126,0.0007239502,0.02701099],"study_design_scores_gemma":[0.0001705196,0.0007904134,0.7696778,0.00003134396,0.0002442271,0.2062385,0.0004410304,0.0007861899,0.01808494,0.0003594371,0.003125106,0.00005039617],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991646,0.0001886937,0.0002267992,0.00002885794,0.000004277291,0.000005272102,0.00005557402,0.00001079409,0.0003151358],"genre_scores_gemma":[0.9993646,0.00007811181,0.0002499644,0.00003677196,0.00001185293,0.000005234053,0.00007713024,0.000005856167,0.0001706335],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001541726,"threshold_uncertainty_score":0.00515759,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01413931618472535,"score_gpt":0.2380728375492259,"score_spread":0.2239335213645005,"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."}}