{"id":"W2142530973","doi":"10.1186/1471-2156-8-26","title":"Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1","year":2007,"lang":"en","type":"article","venue":"BMC Genetics","topic":"Ophthalmology and Eye Disorders","field":"Medicine","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Children's Hospital of Eastern Ontario; University of British Columbia; Children's & Women's Health Centre of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Eye Institute; U.S. Public Health Service; National Institutes of Health","keywords":"Proband; Genetics; Mutation; Biology; Kinesin; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001202883,0.0001050749,0.0002100887,0.00006480922,0.00004965337,0.000001934953,0.0002981774,0.0001706415,0.00002877791],"category_scores_gemma":[0.0002288741,0.00005447343,0.00007759321,0.0004256031,0.0004715543,0.0000108923,0.00004750862,0.0002970002,0.000002972409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002089771,"about_ca_system_score_gemma":0.0001512446,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008441284,"about_ca_topic_score_gemma":0.006991038,"domain_scores_codex":[0.9988827,0.0001172274,0.0004508528,0.0001451366,0.0001787712,0.0002253406],"domain_scores_gemma":[0.9985684,0.000669229,0.0001774342,0.0005028083,0.00006276368,0.00001942654],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001476492,0.0002702911,0.9879748,0.00003851215,0.00001886709,0.00001063628,0.00242327,0.0003835823,0.00318593,0.005355954,0.000103021,0.00008753784],"study_design_scores_gemma":[0.00112567,0.0001615457,0.9870258,0.00002684181,0.00003674259,0.00006439871,0.002952313,0.0001006587,0.001089269,0.007104498,0.0002558067,0.00005647528],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921622,0.0008528996,0.0009235292,0.001921267,0.0001368291,0.0004558189,0.00001217577,0.000004096715,0.003531222],"genre_scores_gemma":[0.9976001,0.0000485379,0.001776809,0.0004602196,0.0000315048,0.00001729441,0.000008213902,0.000009464353,0.00004785246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006906625,"threshold_uncertainty_score":0.3901163,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02922743241508134,"score_gpt":0.3006044417572719,"score_spread":0.2713770093421905,"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."}}