{"id":"W2136556762","doi":"10.1002/humu.20958","title":"<i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype","year":2009,"lang":"en","type":"review","venue":"Human Mutation","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":262,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"National Institute of Dental and Craniofacial Research; National Institutes of Health; Johns Hopkins University","keywords":"Biology; Genetics; Connexin; Phenotype; Palmoplantar keratoderma; Mutation; Penetrance; Gene; Gap junction","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":[0.0001301268,0.0004508538,0.0002339774,0.001051727,0.0002820688,0.0002759392,0.0001622482,0.0002550156,0.001405453],"category_scores_gemma":[0.0004933397,0.00009361556,0.000173561,0.001115779,0.0004497066,0.0001547434,0.0002315572,0.0001373113,0.0002957038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00019326,"about_ca_system_score_gemma":0.0001250096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001833638,"about_ca_topic_score_gemma":0.001893583,"domain_scores_codex":[0.9998653,0.00002578427,0.00002598631,0.00003731437,0.00002210555,0.00002360374],"domain_scores_gemma":[0.9998369,0.00006107725,0.00006959288,0.000008183478,0.000006433579,0.00001779208],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001180783,0.0001523531,0.4756278,0.001371654,0.0003990141,0.260059,0.002029177,0.0012024,0.1020609,0.002729217,0.007890436,0.1452973],"study_design_scores_gemma":[0.00002800993,0.0002419387,0.4835669,0.0001924286,0.0002966816,0.4702248,0.0003314809,0.0002267114,0.01091423,0.0007843759,0.0331587,0.00003368592],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9628065,0.02713264,0.0007353684,0.0002218808,0.00004778853,0.00003280714,0.0006146208,0.00005438097,0.008354057],"genre_scores_gemma":[0.9823897,0.01436109,0.001055845,0.0001207766,0.00006272769,0.00001956779,0.0005223525,0.00001763576,0.001450238],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001833638,"threshold_uncertainty_score":0.004701674,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02326914291928947,"score_gpt":0.3104047293652874,"score_spread":0.287135586445998,"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."}}