{"id":"W2141010793","doi":"10.1038/ejhg.2012.80","title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes","year":2012,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":149,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Center for Research Resources; National Eye Institute; National Institutes of Health; Georgia Clinical and Translational Science Alliance","keywords":"PITX2; Genetics; Biology; Dysgenesis; Mutation; Gene; Homeobox; Transcription factor","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":[0.0002120863,0.001658453,0.0004940887,0.001992579,0.0006332075,0.0005008166,0.0005776376,0.001076265,0.00468054],"category_scores_gemma":[0.0006557666,0.0002821637,0.0003898323,0.0009150255,0.001041945,0.0004199584,0.0008210666,0.00041922,0.0002669776],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004039505,"about_ca_system_score_gemma":0.0004614321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001782276,"about_ca_topic_score_gemma":0.001912342,"domain_scores_codex":[0.9996948,0.00002148573,0.00003083959,0.00007096201,0.0001191579,0.00006275396],"domain_scores_gemma":[0.9996767,0.00009456211,0.0001034744,0.00001869619,0.0000281998,0.00007834326],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000965848,0.00008838974,0.05866117,0.0001970567,0.0001698408,0.5917259,0.0005287376,0.0007011803,0.3285736,0.002980553,0.001016243,0.01439136],"study_design_scores_gemma":[0.0001581128,0.0002343532,0.1733283,0.00009127937,0.0004650826,0.7526727,0.0005170766,0.002299516,0.06180594,0.003250528,0.005120636,0.00005644266],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992146,0.001068308,0.0008798458,0.0002893118,0.00002726375,0.00002205432,0.000270789,0.00006269618,0.005233654],"genre_scores_gemma":[0.9981983,0.0002693891,0.0005553566,0.00006784423,0.00003627211,0.000009643139,0.00008041112,0.00001811366,0.0007647172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00468054,"threshold_uncertainty_score":0.01565796,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02217459753773609,"score_gpt":0.2559779080473908,"score_spread":0.2338033105096547,"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."}}