{"id":"W2117061251","doi":"10.1086/339986","title":"Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome","year":2002,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":373,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital","funders":"National Institutes of Health; National Institute of Arthritis and Musculoskeletal and Skin Diseases; British Medical Association","keywords":"Missense mutation; Palmoplantar keratoderma; Sensorineural hearing loss; Connexin; Biology; Ichthyosis; Ectodermal dysplasia; Phenotype; Genetics; Dysplasia; Pathology; Hearing loss; Medicine; Hyperkeratosis; Gene; Audiology; 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":[],"consensus_categories":[],"category_scores_codex":[0.0003529683,0.0001881353,0.0002962411,0.00009083408,0.0002486833,0.00004883606,0.0004800469,0.0000563444,0.00008186376],"category_scores_gemma":[0.00006177829,0.0001215904,0.0001321631,0.0001863437,0.0006048495,0.00000486197,0.00008903159,0.0002893099,0.00001068088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002269373,"about_ca_system_score_gemma":0.00004753719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002402604,"about_ca_topic_score_gemma":0.0001249132,"domain_scores_codex":[0.9985042,0.0003497188,0.0004915898,0.0001867619,0.0001556038,0.0003121317],"domain_scores_gemma":[0.9988466,0.00009726483,0.0004455504,0.0003945246,0.000132213,0.00008388106],"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":[0.0002824804,0.0004638191,0.02876324,0.00002346092,0.0007946841,0.001222314,0.004941396,0.00386015,0.9411144,0.0007130551,0.003521046,0.01429991],"study_design_scores_gemma":[0.0100383,0.0275988,0.6631627,0.0004040157,0.001489222,0.0634236,0.02395106,0.004481375,0.1544702,0.002175648,0.04516711,0.003637985],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964949,0.001786648,0.0001108102,0.001077918,0.0001286634,0.0001214096,0.000007594523,0.000005385409,0.0002666013],"genre_scores_gemma":[0.9979978,0.0006753188,0.0001580818,0.0007349624,0.0002426287,0.000005665166,0.000004534401,0.00003089708,0.0001501482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7866443,"threshold_uncertainty_score":0.4958314,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02143842781988645,"score_gpt":0.2700860803399524,"score_spread":0.248647652520066,"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."}}