{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007288074,0.0001221151,0.0001431806,0.0000195865,0.0001207059,0.00001603277,0.0002798346,0.00003903817,0.000009809344],"category_scores_gemma":[0.00005959315,0.00009274369,0.0001521176,0.0001141073,0.0001270749,0.000002967053,0.000141923,0.000104033,0.000001650698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000263924,"about_ca_system_score_gemma":0.00005467081,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001762961,"about_ca_topic_score_gemma":0.000008502087,"domain_scores_codex":[0.9987682,0.0001680738,0.0005274551,0.0001198908,0.0002186221,0.0001978119],"domain_scores_gemma":[0.9989284,0.000005184172,0.0004493807,0.0002876582,0.0002362907,0.00009302875],"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":[0.00009399973,0.0002785324,0.02289165,0.00005508739,0.0002321879,0.0002053066,0.0001638351,0.001408746,0.9587918,0.0004783425,0.007653968,0.007746534],"study_design_scores_gemma":[0.000912392,0.000695906,0.8465424,0.00008363027,0.000174478,0.001536346,0.00009266912,0.000009090027,0.09500395,0.00005724657,0.05469142,0.0002005416],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868717,0.002713738,0.008876089,0.00003055199,0.0003959933,0.00008425846,0.00004661694,0.000002534003,0.0009784753],"genre_scores_gemma":[0.998578,0.0001524037,0.0006524432,0.00005388729,0.0003559389,1.511785e-7,0.00001860458,0.00001751507,0.0001710226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8637879,"threshold_uncertainty_score":0.3781978,"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."}}