{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002067455,0.0008818267,0.0003243023,0.001328956,0.000602869,0.0003555637,0.0003791373,0.0006046771,0.001840671],"category_scores_gemma":[0.0008191926,0.000256894,0.0003499086,0.0007291086,0.000503563,0.0001633148,0.0003998964,0.0002849333,0.0002342122],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003962704,"about_ca_system_score_gemma":0.0002747597,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001469549,"about_ca_topic_score_gemma":0.001586602,"domain_scores_codex":[0.99976,0.00002137745,0.00004386863,0.00006951667,0.00006771659,0.00003757833],"domain_scores_gemma":[0.9995976,0.0001415111,0.000102004,0.00002363228,0.00004586794,0.00008942533],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007346408,0.0002245838,0.5167176,0.0002584307,0.0002389084,0.2297464,0.002825362,0.0005084715,0.2231536,0.00033386,0.0005287318,0.02472952],"study_design_scores_gemma":[0.0001148412,0.0003781889,0.6805717,0.00003860069,0.0001756228,0.2856916,0.0004795948,0.0007396787,0.02812586,0.000152977,0.003493077,0.00003835831],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990941,0.0001942302,0.0002849774,0.00002460956,0.000004375168,0.00001453076,0.0001253762,0.00001002923,0.0002477585],"genre_scores_gemma":[0.998757,0.0001124101,0.0005607815,0.00002759849,0.00001013105,0.00001525221,0.0002565672,0.000007025332,0.0002532011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001840671,"threshold_uncertainty_score":0.006157696,"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."}}