{"id":"W2043690660","doi":"10.1038/79851","title":"Mutations in GJB6 cause hidrotic ectodermal dysplasia","year":2000,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":288,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital; Montreal General Hospital","funders":"","keywords":"Ectodermal dysplasia; Biology; Genetics; Mutation; Gene","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":[0.00006405577,0.0001488793,0.0001206442,0.00005642691,0.00004897121,0.00001431155,0.0001743805,0.0005238453,0.0003018787],"category_scores_gemma":[0.00003181068,0.0001456221,0.00005692961,0.0001324679,0.0000667297,0.000001580469,0.00003861668,0.0003070448,0.0000479928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001343168,"about_ca_system_score_gemma":0.00007058179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008896706,"about_ca_topic_score_gemma":0.0003894501,"domain_scores_codex":[0.9990768,0.00005228433,0.0001790606,0.0003308547,0.00007858919,0.0002824568],"domain_scores_gemma":[0.9995307,0.00001154626,0.00002771423,0.0003219232,0.00004228979,0.00006583943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000571451,0.0006722554,0.1861262,0.00007010076,0.0002967413,0.0003107466,0.0005968572,0.006068274,0.6327006,0.0004903306,0.01152204,0.1605744],"study_design_scores_gemma":[0.002759821,0.0007638662,0.2788325,0.00002725276,0.00008169438,0.000337141,0.00009129909,0.001222106,0.1486928,0.0005686969,0.5656614,0.0009614293],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932642,0.002915744,0.00002978119,0.0002769163,0.0001650375,0.0001538572,0.00002589873,0.00001249267,0.003156072],"genre_scores_gemma":[0.9962198,0.000570896,0.0006675182,0.0007769269,0.0002618325,0.00001427926,0.000199259,0.00002064234,0.00126889],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5541394,"threshold_uncertainty_score":0.5938296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00616508396869866,"score_gpt":0.2559913986531175,"score_spread":0.2498263146844188,"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."}}