{"id":"W2986886534","doi":"10.1038/s41436-019-0685-9","title":"Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Developmental Biology and Gene Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Engineering and Physical Sciences Research Council; Medical Research Council; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Wellcome Trust; Lister Institute of Preventive Medicine; University of Edinburgh; Scottish Government","keywords":"Microphthalmia; Missense mutation; Genetics; PAX6; Heterozygote advantage; Medicine; DNA; Biology; Mutation; Genotype; Gene; 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":[0.0001406076,0.0008695202,0.0003320954,0.0005695614,0.0002620991,0.0001736223,0.0002527331,0.0003977256,0.002461191],"category_scores_gemma":[0.0003907672,0.0001737494,0.0003348074,0.0003601395,0.0003840721,0.0001346924,0.0003758467,0.0002589419,0.0003774686],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001929569,"about_ca_system_score_gemma":0.0001280899,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005024267,"about_ca_topic_score_gemma":0.0009768417,"domain_scores_codex":[0.9997836,0.00002871087,0.00002590192,0.00006908108,0.00006664421,0.00002614429],"domain_scores_gemma":[0.9997855,0.00005615641,0.0001053277,0.00001796732,0.00001014964,0.00002493178],"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":[0.000843239,0.000118573,0.2130461,0.0002297855,0.0004353621,0.08128174,0.0004156452,0.001538485,0.6787131,0.0007904729,0.0004923971,0.02209503],"study_design_scores_gemma":[0.0001339712,0.0007075992,0.5002816,0.0000413825,0.0004438125,0.3341793,0.0002150788,0.004295393,0.1565507,0.000980773,0.002125327,0.00004513976],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984416,0.0001855728,0.0008861803,0.00001810065,0.000003647083,0.000008441556,0.00009570943,0.00003847914,0.0003221804],"genre_scores_gemma":[0.9991174,0.00005990071,0.0005383682,0.0000113566,0.00000720366,0.000004658606,0.00007550368,0.000006867975,0.0001787638],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002461191,"threshold_uncertainty_score":0.008233547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008545562553006841,"score_gpt":0.2614982698069397,"score_spread":0.2529527072539329,"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."}}