{"id":"W2952806530","doi":"10.1177/0022034519854973","title":"A Novel <i>AMELX</i> Mutation, Its Phenotypic Features, and Skewed X Inactivation","year":2019,"lang":"en","type":"article","venue":"Journal of Dental Research","topic":"Bone and Dental Protein Studies","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"National Institutes of Health; National Institutes of Natural Sciences; National Natural Science Foundation of China","keywords":"Amelogenesis imperfecta; Amelogenin; Proband; Genetics; Biology; Phenotype; X chromosome; Mutation; X-inactivation; Exome sequencing; Allele; Enamel paint; Molecular biology; Gene; Medicine; Dentistry","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":[0.0001730446,0.0006641023,0.0003238265,0.0006052583,0.0004638998,0.0001973182,0.0003695484,0.0007583509,0.001438576],"category_scores_gemma":[0.0003457766,0.0001661465,0.0002398649,0.0002739822,0.0005991959,0.0001996332,0.0003725874,0.0003965731,0.000240126],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000175264,"about_ca_system_score_gemma":0.0002434614,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009296932,"about_ca_topic_score_gemma":0.000889949,"domain_scores_codex":[0.9998192,0.00001921086,0.00002612206,0.0000641502,0.00003942159,0.00003193432],"domain_scores_gemma":[0.9998087,0.00006072172,0.00005626922,0.00001314595,0.00001375008,0.0000474902],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000333168,0.0001912891,0.03613039,0.00012245,0.00005657268,0.7288156,0.0007149148,0.0002179829,0.2177565,0.001462575,0.0006811153,0.01351757],"study_design_scores_gemma":[0.00006349706,0.0004864755,0.1179143,0.0000273387,0.00009024537,0.8393444,0.000246713,0.0008759574,0.03408217,0.0005326684,0.006303646,0.00003254343],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960434,0.0004371424,0.0008826723,0.0002242153,0.00003181378,0.00002454661,0.000177059,0.00004075935,0.002138347],"genre_scores_gemma":[0.9981005,0.0001481824,0.0007598025,0.00007654598,0.00003198418,0.000006420121,0.00007840233,0.00001018547,0.0007879935],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001438576,"threshold_uncertainty_score":0.004812539,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05346195078533991,"score_gpt":0.3768757486354649,"score_spread":0.323413797850125,"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."}}