{"id":"W2958632632","doi":"10.1002/humu.23828","title":"The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/ <i>SLC5A7</i> ) causes a lethal form of fetal akinesia syndrome","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Biology; Phenotype; Congenital myasthenic syndrome; Mutation; Transporter; Genetics; Gene; Solute carrier family; Choline; Fetus; Cell biology; Endocrinology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000625135,0.000199492,0.0003234657,0.0001275435,0.0002045661,0.00004314864,0.0001893685,0.0001341638,0.0001698194],"category_scores_gemma":[0.00002630004,0.0001228123,0.000131006,0.0002624146,0.0001071924,0.0001993679,0.00001248514,0.0003445664,0.00002759067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000497168,"about_ca_system_score_gemma":0.00004468239,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005263688,"about_ca_topic_score_gemma":0.0009090067,"domain_scores_codex":[0.9983259,0.00006991072,0.0005963798,0.000259301,0.0004919804,0.0002565403],"domain_scores_gemma":[0.9990332,0.0001139046,0.0002673471,0.0003999691,0.0001411532,0.00004446997],"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":[0.001996792,0.006270205,0.2139669,0.002579962,0.0009051737,0.00179408,0.07944884,0.0005034158,0.5394153,0.1391066,0.0009371521,0.01307562],"study_design_scores_gemma":[0.003865498,0.0006787058,0.9883307,0.0001335458,0.0001380434,0.0004524387,0.0008995412,0.000277994,0.002023236,0.002779923,0.0002524809,0.000167853],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972172,0.00004301002,0.0001232058,0.0006104975,0.0001091317,0.0009340284,0.00002319564,0.00003247288,0.0009072587],"genre_scores_gemma":[0.9987376,0.000002765216,0.00009357555,0.0002500814,0.00009347485,0.00005391482,0.0004103152,0.00003034384,0.0003279568],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7743638,"threshold_uncertainty_score":0.5008141,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02141562353385039,"score_gpt":0.2827140226233932,"score_spread":0.2612983990895428,"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."}}