{"id":"W2080676561","doi":"10.1007/s00439-012-1207-x","title":"Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia","year":2012,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Biology; Sarcosine; Human genetics; Genetics; Gene; Molecular medicine; Metabolic disease; Computational biology; Endocrinology; Amino acid; Glycine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002140028,0.00116714,0.0003934332,0.001448649,0.0007261899,0.0003649011,0.0003846801,0.001284938,0.001768794],"category_scores_gemma":[0.001538846,0.0003035155,0.0002795916,0.0008351073,0.0006342754,0.0003417895,0.000380404,0.0003835036,0.0002122088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002603202,"about_ca_system_score_gemma":0.0002973571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001309122,"about_ca_topic_score_gemma":0.001017551,"domain_scores_codex":[0.9997545,0.00003885571,0.00004113671,0.00006298435,0.00006093643,0.00004166582],"domain_scores_gemma":[0.9995046,0.000209378,0.0001249453,0.00002217061,0.00004100307,0.00009794088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001685513,0.0001699512,0.5102677,0.00009651591,0.0001513877,0.3772756,0.001967786,0.00124218,0.09365116,0.001202729,0.0007753973,0.01151416],"study_design_scores_gemma":[0.0001085272,0.0005070723,0.4346255,0.00003789332,0.0002809109,0.542961,0.0009631558,0.002317912,0.01561144,0.001147039,0.001372874,0.0000665417],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983554,0.0001898928,0.0003077879,0.0001319839,0.00001324289,0.000005063833,0.0000672895,0.0000165723,0.0009126946],"genre_scores_gemma":[0.9995775,0.00006719784,0.0001447963,0.0000189385,0.00001326729,0.000002039485,0.00003288645,0.00000380896,0.0001396282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001768794,"threshold_uncertainty_score":0.005917192,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01178772805927869,"score_gpt":0.2426123216915446,"score_spread":0.2308245936322659,"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."}}