{"id":"W4406224161","doi":"10.1002/jmd2.12465","title":"Severe neonatal hypotonia due to <scp><i>SLC30A5</i></scp> variant affecting function of <scp>ZnT5</scp> zinc transporter","year":2025,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Trace Elements in Health","field":"Nursing","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"Breakthrough T1D Canada; National Institute of Diabetes and Digestive and Kidney Diseases; Biotechnology and Biological Sciences Research Council; Medical Research Council; Ministry of Science and Technology, Israel; Israel Science Foundation; Diabetes UK; Wellcome Trust","keywords":"Hypotonia; Failure to thrive; Cardiomyopathy; Solute carrier family; Medicine; Biology; Internal medicine; Endocrinology; Genetics; Heart failure; Transporter","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":[0.0001454762,0.001000988,0.0004340515,0.000472657,0.0003956848,0.0001911827,0.000273889,0.0006865342,0.001295403],"category_scores_gemma":[0.0004253421,0.0001571873,0.0003612763,0.0002776691,0.0006973549,0.000135173,0.0003942168,0.0004744588,0.0002126125],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003486275,"about_ca_system_score_gemma":0.0003083939,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002991914,"about_ca_topic_score_gemma":0.002648624,"domain_scores_codex":[0.9998149,0.00002817881,0.00002778732,0.00005666802,0.00004343521,0.00002907505],"domain_scores_gemma":[0.9997248,0.00008388616,0.00006883147,0.00001205803,0.00001927482,0.00009101468],"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":[0.0005385382,0.0001011735,0.02096377,0.0001669409,0.0001248888,0.5559778,0.0003701073,0.000571599,0.4151426,0.0005933883,0.0006064066,0.004842715],"study_design_scores_gemma":[0.0001147864,0.00109452,0.1804253,0.00006636277,0.000276699,0.6744482,0.0003439368,0.003894705,0.1357252,0.0005198729,0.003015304,0.0000751206],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956129,0.0002886035,0.001988645,0.0001905879,0.00005846144,0.00003866903,0.0004856777,0.0001177503,0.001218697],"genre_scores_gemma":[0.9987413,0.0001009966,0.0004588178,0.00008627505,0.00002240588,0.000008030343,0.000201607,0.00001668154,0.000363933],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002991914,"threshold_uncertainty_score":0.00594902,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0096923894264473,"score_gpt":0.2591534129032521,"score_spread":0.2494610234768048,"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."}}