{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001956344,0.001446067,0.0007798835,0.001413253,0.0007416943,0.0003531515,0.0005055409,0.00196758,0.005845924],"category_scores_gemma":[0.0006714547,0.0005252165,0.0003872162,0.0007577686,0.00112084,0.0003684858,0.0008334261,0.001111519,0.001337983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000300437,"about_ca_system_score_gemma":0.0002954519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001492093,"about_ca_topic_score_gemma":0.002622918,"domain_scores_codex":[0.9996729,0.00005340706,0.00004747542,0.00006402776,0.0001060727,0.00005616577],"domain_scores_gemma":[0.9992595,0.0002229014,0.0002285862,0.00004269622,0.00003509932,0.0002111421],"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":[0.0008138549,0.0001271016,0.006839422,0.0002568608,0.0002110283,0.1454086,0.0004360248,0.0005500099,0.8338104,0.002009669,0.001523725,0.008013262],"study_design_scores_gemma":[0.0003656757,0.0005466559,0.1597976,0.0001656515,0.000728327,0.5054743,0.0006566339,0.002782863,0.3049423,0.001784009,0.02262,0.0001360092],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.98231,0.002750011,0.003344016,0.0006440606,0.0002769468,0.00006036721,0.001061116,0.0003288197,0.009224704],"genre_scores_gemma":[0.9942607,0.0007499853,0.001529976,0.0001253966,0.0000762776,0.0000150765,0.0002371837,0.00008521555,0.00292013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005845924,"threshold_uncertainty_score":0.01955658,"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."}}