{"id":"W4388302942","doi":"10.1002/ajmg.a.63455","title":"Phenotypic heterogeneity associated with <scp><i>KIF21A</i></scp>: Two new cases and review of the literature","year":2023,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; University of Ottawa; Children's Hospital of Eastern Ontario","funders":"National Human Genome Research Institute; Genome Alberta; National Heart, Lung, and Blood Institute; Université de Montréal; Génome Québec; Genome British Columbia; Ontario Genomics Institute; Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Genome Canada; Ontario Research Foundation; Johns Hopkins University","keywords":"Phenotype; Biology; Genetics; Allele; Genetic heterogeneity; Allelic heterogeneity; Gene; Disease; Computational biology; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003026596,0.001159165,0.001775025,0.005391651,0.0003811756,0.0008728905,0.001030314,0.001301363,0.002407557],"category_scores_gemma":[0.0007922884,0.0003066916,0.0005648932,0.003511977,0.0009140852,0.001617238,0.0006914302,0.001555756,0.001515382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004977572,"about_ca_system_score_gemma":0.0005819782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008013624,"about_ca_topic_score_gemma":0.001518764,"domain_scores_codex":[0.9997531,0.00002863657,0.00007413437,0.00005635072,0.00006114491,0.00002670727],"domain_scores_gemma":[0.9995888,0.0002024342,0.00007178089,0.00002144642,0.00005630848,0.00005925654],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.00009536714,0.0001077187,0.002274403,0.01413899,0.0002128654,0.06213504,0.0003671211,0.0005637977,0.003149832,0.002002419,0.05237628,0.862576],"study_design_scores_gemma":[0.00002306179,0.0001004112,0.007010716,0.004640561,0.0003069986,0.5645311,0.0003956158,0.0002237009,0.0009774419,0.002059091,0.4196185,0.0001127573],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002079284,0.9933427,0.0007486096,0.000692322,0.0006187995,0.00001547348,0.00004766618,0.00003466255,0.002420505],"genre_scores_gemma":[0.009869796,0.9857855,0.0008395653,0.0008403863,0.001055471,0.00001645875,0.0001203349,0.00001247514,0.001460084],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005391651,"threshold_uncertainty_score":0.008054078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0224083262110012,"score_gpt":0.3196266207061687,"score_spread":0.2972182944951675,"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."}}