{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002937177,0.000344542,0.000445624,0.0001162323,0.0003844756,0.0001669525,0.0001949584,0.0004414229,0.00006605089],"category_scores_gemma":[0.0001599274,0.0002619329,0.0001574845,0.0001496953,0.00009006103,0.00001039766,0.00008395115,0.0002299547,0.0002030105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004642328,"about_ca_system_score_gemma":0.0001482889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004855307,"about_ca_topic_score_gemma":0.0004610654,"domain_scores_codex":[0.9983656,0.0002072565,0.0004616897,0.0005876775,0.0001345565,0.0002431647],"domain_scores_gemma":[0.9991171,0.00004949756,0.000261588,0.0003728359,0.0001122161,0.00008681566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004569221,0.00006588676,0.000006272079,0.0005206344,0.000246591,0.00001749309,0.0002460358,0.00002090817,0.0003290551,0.004608941,0.008943743,0.9849488],"study_design_scores_gemma":[0.0002716832,0.0005824497,0.0001527044,0.0003655869,0.0003299204,0.0001608748,0.00006783937,0.00000580903,0.00002275325,0.0006242569,0.9970779,0.0003382075],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002679432,0.990394,0.0004289323,0.0004561967,0.0003196791,0.001172155,0.00008285927,0.00003699927,0.004429733],"genre_scores_gemma":[0.02998164,0.9558524,0.0001781417,0.001162407,0.0009815921,0.0001937496,0.007464718,0.00008195301,0.004103418],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9881341,"threshold_uncertainty_score":0.9999833,"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."}}