{"id":"W857473850","doi":"","title":"Discovery of a novel deletion in PITX2 by dye-based quantitative PCR confirms that haploinsufficiency is a disease-causing mechanism for Axenfeld-Rieger Syndrome","year":2014,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Haploinsufficiency; Mechanism (biology); PITX2; Genetics; Biology; Gene; Homeobox; Philosophy; Phenotype; 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":[0.0002421303,0.0004655494,0.0002408495,0.0006465637,0.0002681746,0.0002856508,0.0004632781,0.0005801008,0.002009116],"category_scores_gemma":[0.0005728899,0.0002390859,0.000296066,0.0002502232,0.0006390452,0.0002772707,0.000284583,0.0007289036,0.0004593002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001789261,"about_ca_system_score_gemma":0.0001821431,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005794242,"about_ca_topic_score_gemma":0.000919573,"domain_scores_codex":[0.999703,0.00002336116,0.00002979122,0.0001018679,0.00009881557,0.00004316735],"domain_scores_gemma":[0.9994752,0.0002703126,0.00007413024,0.00007414417,0.00003484097,0.00007151869],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001931609,0.000008978893,0.0003244901,0.000008212557,0.000002488187,0.0003994069,0.00001742755,0.00003285408,0.9982261,0.0002053633,0.00002127589,0.000734114],"study_design_scores_gemma":[0.00001178102,0.000088708,0.01307149,0.000005085875,0.00001985175,0.004633439,0.00003948564,0.001947868,0.9782853,0.0002419483,0.001644272,0.00001082111],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9394691,0.0003273413,0.05534313,0.0002876459,0.00006524351,0.0000748286,0.002003467,0.0004414717,0.001987734],"genre_scores_gemma":[0.9745551,0.0001874627,0.02194162,0.0001036761,0.00001535324,0.0000735973,0.001278964,0.0001209708,0.001723216],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002009116,"threshold_uncertainty_score":0.006721199,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04460454217374187,"score_gpt":0.3251269107675257,"score_spread":0.2805223685937838,"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."}}