{"id":"W2920966321","doi":"10.1002/ajmg.a.61110","title":"First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of <i>SLC12A6</i> gene","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Frameshift mutation; Founder effect; Mutation; Genetics; Agenesis of the corpus callosum; Muscle contracture; Population; Exon; Corpus callosum; Hereditary motor and sensory neuropathy; Medicine; Allele; Pathology; Biology; Haplotype; Anatomy; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004357809,0.0001550717,0.0007361694,0.000178115,0.00001208339,0.00000307335,0.0001664789,0.000112714,0.0002164574],"category_scores_gemma":[0.0001424572,0.0001058443,0.0001241115,0.0006301432,0.0003978983,0.00003244265,0.00003537723,0.0005005081,0.000005203229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001724904,"about_ca_system_score_gemma":0.0002893898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001035774,"about_ca_topic_score_gemma":0.00007930282,"domain_scores_codex":[0.9978186,0.00007590633,0.0007849305,0.0001773624,0.0009096063,0.0002335406],"domain_scores_gemma":[0.9984444,0.0002856553,0.000619924,0.000183813,0.0001363703,0.000329783],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01416269,0.01224171,0.6124982,0.002491843,0.001686412,0.09739094,0.009664423,0.01055003,0.01863077,0.0001617796,0.00229306,0.2182282],"study_design_scores_gemma":[0.04122353,0.09603012,0.6626624,0.00220573,0.001511834,0.1678141,0.005195663,0.01036594,0.003623936,0.0002906616,0.007900739,0.001175359],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963529,0.001162593,0.0007555766,0.001312959,0.0001110895,0.0001941695,0.00001161144,0.000004305683,0.00009482315],"genre_scores_gemma":[0.9968612,0.0009929016,0.001422141,0.0006243297,0.00005037428,0.000002873107,0.000004543787,0.00001647851,0.00002514711],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2170528,"threshold_uncertainty_score":0.4316204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01887551466995619,"score_gpt":0.2882586162571949,"score_spread":0.2693831015872387,"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."}}