{"id":"W2039118607","doi":"10.1038/sj.ejhg.5201881","title":"Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome","year":2007,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Amino Acid Enzymes and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Vlaamse regering; Fonds Wetenschappelijk Onderzoek; McGill University","keywords":"Hypotonia; Cystinuria; Failure to thrive; Pediatrics; Muscle Hypotonia; Genetics; Medicine; Zellweger syndrome; Biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002893475,0.0005111872,0.0006325853,0.002671588,0.0002373728,0.0004609072,0.0002706205,0.00033633,0.005429286],"category_scores_gemma":[0.0007173024,0.00020274,0.0003144101,0.001412081,0.0004487585,0.0002348311,0.0005884013,0.0003047022,0.0006642995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001345856,"about_ca_system_score_gemma":0.0001292634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006428818,"about_ca_topic_score_gemma":0.000751889,"domain_scores_codex":[0.9996167,0.00004278592,0.00005084066,0.000165594,0.00006387657,0.00006010855],"domain_scores_gemma":[0.9990847,0.0002399648,0.0002877571,0.0000783978,0.0001409352,0.0001682531],"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":[0.003300504,0.00005936636,0.2699955,0.0003445849,0.00090654,0.002362461,0.0005415523,0.0007500186,0.6843005,0.0005140044,0.0007954366,0.03612952],"study_design_scores_gemma":[0.00003024225,0.0001434434,0.9777461,0.00001719543,0.0003570652,0.005830926,0.0001324814,0.000193253,0.01311731,0.0002402113,0.002176613,0.00001518717],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935272,0.001468359,0.0008938875,0.0000538904,0.000007860926,0.000008402545,0.002059518,0.00008525849,0.001895574],"genre_scores_gemma":[0.9968369,0.0005049625,0.0004567452,0.0000233076,0.00001616567,0.00000897998,0.001599097,0.00003418453,0.0005196664],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005429286,"threshold_uncertainty_score":0.01816279,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01166463156639305,"score_gpt":0.2503177360477165,"score_spread":0.2386531044813235,"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."}}