{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007789909,0.00007589021,0.0002248127,0.0002630644,0.00009159797,0.00004217855,0.00006617762,0.00006223816,0.00006051548],"category_scores_gemma":[0.000375945,0.00005670814,0.00005702582,0.0002903973,0.00006656338,0.0002439723,0.00008620092,0.0005699378,0.00006277191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001148142,"about_ca_system_score_gemma":0.0001019437,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003487022,"about_ca_topic_score_gemma":0.0000109354,"domain_scores_codex":[0.9984644,0.00005321654,0.0002484753,0.0001146008,0.0009260923,0.0001931943],"domain_scores_gemma":[0.998958,0.0001536757,0.0001108638,0.00008833787,0.0005648609,0.0001242536],"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":[0.00262352,0.0005628337,0.04068084,0.0003346908,0.0002467906,0.0002691769,0.0007911474,0.0000023236,0.927596,0.0007594105,0.007975589,0.01815772],"study_design_scores_gemma":[0.009157447,0.00335564,0.8527424,0.0007605515,0.00007038036,0.007469279,0.005813762,0.00005762158,0.1148918,0.0008962631,0.004594759,0.0001900357],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911575,0.003562331,0.00004960848,0.0008356794,0.0001254995,0.0003431749,0.000002035987,0.000004926289,0.003919233],"genre_scores_gemma":[0.996103,0.0003255552,0.0004231461,0.0001502784,0.0001821082,0.000003297017,0.000002151207,0.00001191562,0.002798482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8127041,"threshold_uncertainty_score":0.2476128,"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."}}