{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009432363,0.0008753864,0.0002496283,0.0004207924,0.000413679,0.0001707762,0.0003538204,0.000772727,0.001564024],"category_scores_gemma":[0.0004235893,0.0001003191,0.0002543089,0.000215721,0.0006563513,0.0001142953,0.0003463964,0.0003305659,0.0003273505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002601964,"about_ca_system_score_gemma":0.0001915317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001381826,"about_ca_topic_score_gemma":0.001656441,"domain_scores_codex":[0.9999049,0.00001490657,0.000008968111,0.00002784181,0.00002598367,0.00001749646],"domain_scores_gemma":[0.9998142,0.00004746193,0.00006133473,0.000006671954,0.00001080007,0.0000594999],"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":[0.0004197766,0.0001192499,0.04636012,0.0001363713,0.0001207534,0.707085,0.001146394,0.0007781566,0.228091,0.001242483,0.001026386,0.01347425],"study_design_scores_gemma":[0.0001214229,0.0005273099,0.1233571,0.00004508602,0.0001124878,0.827491,0.0004343326,0.001559234,0.04010961,0.0006602622,0.005537561,0.00004454665],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972479,0.0002771033,0.0007205791,0.0002994876,0.00003290211,0.00001500112,0.000133886,0.00003944528,0.001233606],"genre_scores_gemma":[0.9986402,0.0001362754,0.0004209065,0.00006222698,0.00003796002,0.000005621136,0.0000723021,0.00001243337,0.0006119845],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001564024,"threshold_uncertainty_score":0.005232215,"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."}}