{"id":"W4250731991","doi":"10.22541/au.158981929.90917771","title":"Novel mutations A210G and L15Q TBX5 gene in the patients with non-syndromic congenital defects of the heart septal","year":2020,"lang":"en","type":"preprint","venue":"","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"Kurdistan University Of Medical Sciences","keywords":"Missense mutation; Exon; Genetics; Gene; Mutation; Biology; Mutation testing; Heart disease; Medicine; Pathology","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":[0.0001758178,0.0008461577,0.0003167976,0.001053884,0.0004448871,0.00035951,0.0003299812,0.0008494483,0.002268281],"category_scores_gemma":[0.0005822348,0.0002886918,0.000457166,0.0004190095,0.0003442132,0.0001675306,0.0003205751,0.0002420188,0.0003081165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001737776,"about_ca_system_score_gemma":0.0001573357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009725527,"about_ca_topic_score_gemma":0.001104964,"domain_scores_codex":[0.9997362,0.00002449643,0.00004140092,0.0001076643,0.0000547027,0.00003551594],"domain_scores_gemma":[0.9998105,0.00004468955,0.00006111176,0.00001091582,0.00001635679,0.00005643592],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008260375,0.0002663299,0.4875345,0.0001226889,0.0001691977,0.3795305,0.001192763,0.0003362967,0.1184172,0.0003611759,0.0007053523,0.01053801],"study_design_scores_gemma":[0.00008849911,0.000501078,0.5336282,0.00004520661,0.0001532657,0.4507078,0.0003976297,0.0009784012,0.01183442,0.0001737342,0.001459572,0.00003215846],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991209,0.0001761518,0.0002104591,0.00004605131,0.000009455709,0.00001118144,0.0001195255,0.00001159413,0.0002946703],"genre_scores_gemma":[0.9994439,0.00006115738,0.0001595971,0.00003278014,0.000009442689,0.000003800599,0.000086835,0.000003367119,0.0001990761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002268281,"threshold_uncertainty_score":0.007588148,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0140189171466658,"score_gpt":0.2585837409872865,"score_spread":0.2445648238406207,"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."}}