{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001418075,0.001939617,0.0006410143,0.0009215864,0.000744219,0.0003849385,0.0003632026,0.001406561,0.001971836],"category_scores_gemma":[0.0007029313,0.0003983697,0.0003721676,0.0008072889,0.001051338,0.0003224085,0.0007223355,0.0007027622,0.0007281076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003613741,"about_ca_system_score_gemma":0.000265401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001319706,"about_ca_topic_score_gemma":0.002526832,"domain_scores_codex":[0.9997969,0.00002234888,0.00002325824,0.00004560479,0.00007471432,0.00003714722],"domain_scores_gemma":[0.9996265,0.0001029174,0.00009942204,0.00002152943,0.00001808301,0.0001315539],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008271891,0.0001543811,0.01762399,0.0001607114,0.0002828393,0.6873488,0.0008066125,0.0008169141,0.2791016,0.001669587,0.002146085,0.009061291],"study_design_scores_gemma":[0.0003349372,0.0005472887,0.1877614,0.00004911062,0.0005508572,0.7147722,0.0006104456,0.002185517,0.08186111,0.001440621,0.009779732,0.0001068833],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941853,0.0007486864,0.001167203,0.0002831797,0.0001176254,0.00003048725,0.0002958728,0.0001392754,0.003032436],"genre_scores_gemma":[0.9977146,0.0002410711,0.0005197282,0.00006485902,0.00005158934,0.000008651623,0.0001367256,0.0000320874,0.001230689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001971836,"threshold_uncertainty_score":0.006596446,"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."}}