{"id":"W2023214181","doi":"10.1136/jmedgenet-2014-102677","title":"Mutations in <i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome","year":2014,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institute of General Medical Sciences; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Genetics; Missense mutation; Hypertelorism; Biology; Speech delay; Exome sequencing; Mutation; Gene","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":[0.0001345609,0.0008600918,0.0002656983,0.001073099,0.0004421104,0.0002320379,0.000445578,0.0005958132,0.001243326],"category_scores_gemma":[0.0008787292,0.0001705581,0.0002415654,0.0006999493,0.0007165617,0.0001152424,0.0005398389,0.0003461284,0.0002167074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003064788,"about_ca_system_score_gemma":0.0002540544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001835806,"about_ca_topic_score_gemma":0.002365562,"domain_scores_codex":[0.9998324,0.00001141687,0.00001509958,0.00004131244,0.00006244623,0.00003728113],"domain_scores_gemma":[0.9995242,0.0001036581,0.0002556318,0.00002099917,0.0000238812,0.00007176146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004885695,0.00009195966,0.2527202,0.0003048966,0.0001498134,0.2948976,0.001024087,0.0009860491,0.4158354,0.0005114708,0.001314283,0.03167568],"study_design_scores_gemma":[0.00005018894,0.0002330542,0.4046693,0.00006196726,0.0001475696,0.5322229,0.0003010914,0.001266877,0.05656902,0.0003279491,0.004110498,0.00003959141],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978991,0.0003997902,0.0005856727,0.00007123689,0.000005452254,0.00001328754,0.000187125,0.00006102721,0.0007773642],"genre_scores_gemma":[0.9986612,0.000185557,0.0007335372,0.00003882332,0.000009565797,0.00001061438,0.0001753581,0.00001293176,0.0001723403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001835806,"threshold_uncertainty_score":0.004159331,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01301469436410117,"score_gpt":0.2908500285652851,"score_spread":0.2778353342011839,"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."}}