{"id":"W4390111264","doi":"10.1111/odi.14838","title":"Identification of six novel mutations in <scp>EDA</scp> from 20 hypohidrotic ectodermal dysplasia families","year":2023,"lang":"en","type":"article","venue":"Oral Diseases","topic":"dental development and anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ministry of Education and Child Care","funders":"National Key Research and Development Program of China; State Key Laboratory of Ophthalmology; National Natural Science Foundation of China","keywords":"Hypohidrotic ectodermal dysplasia; Genetics; Biology; Exon; Exome sequencing; Sanger sequencing; Phenotype; Ectodermal dysplasia; INDEL Mutation; OMIM : Online Mendelian Inheritance in Man; Gene; Mutation; Genotype; Single-nucleotide polymorphism","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":[0.00003291718,0.0001028897,0.0001087995,0.00009168755,0.00004295812,0.00002607128,0.0001244681,0.00005223265,0.00001077122],"category_scores_gemma":[0.0001646452,0.000105484,0.00005999042,0.0002122637,0.00007702928,0.0000123983,0.00007461651,0.00002659947,0.00007161093],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007491759,"about_ca_system_score_gemma":0.00004929288,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003317036,"about_ca_topic_score_gemma":0.0001380998,"domain_scores_codex":[0.999272,0.00001960641,0.0002184504,0.0002174109,0.0001185881,0.0001538925],"domain_scores_gemma":[0.9996793,0.00003413815,0.00006611821,0.0001365644,0.00003472642,0.00004914416],"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":[0.0000111797,0.0001280539,0.2166,0.00002732029,0.00003443666,0.000006527763,0.0001057058,0.0002034682,0.7803314,0.00006455609,0.001924916,0.0005624893],"study_design_scores_gemma":[0.0003717128,0.00002482588,0.8722486,0.00001829285,0.00002546634,7.361804e-7,0.0007052162,0.0002542652,0.1251599,0.0002447875,0.0008831044,0.00006305484],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986174,0.0002636666,0.00006634942,0.00003954825,0.0001323412,0.0001129779,0.0004920815,0.0000245586,0.0002511504],"genre_scores_gemma":[0.9955105,0.00009375856,0.00007493646,0.00003217028,0.00004268203,0.00003392629,0.002621629,0.00001317103,0.001577291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6556486,"threshold_uncertainty_score":0.4301513,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01122550969889593,"score_gpt":0.2465482672332142,"score_spread":0.2353227575343182,"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."}}