{"id":"W2119784192","doi":"10.1007/s10048-010-0251-8","title":"Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31","year":2010,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hôpital Notre-Dame; Université de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Hôpital de l'Enfant-Jésus; Montreal Children's Hospital; McGill University; Université de Montréal","funders":"Canadian Institutes of Health Research; McGill University; National Institute of Neurological Disorders and Stroke; American Academy of Neurology","keywords":"Ataxia; Leukodystrophy; Disease gene identification; Genetics; Population; Cerebellar ataxia; Biology; Neuroscience; Medicine; Pathology; Mutation; Disease; Exome sequencing; Gene","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":[0.0001047998,0.0005165944,0.0002766491,0.0006959842,0.0002847684,0.0003868721,0.0003484622,0.0004451842,0.002087336],"category_scores_gemma":[0.0002695842,0.000148387,0.0002137092,0.0006083391,0.0003605256,0.0001051327,0.0003107174,0.0003999445,0.0009224227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004179583,"about_ca_system_score_gemma":0.000297685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002587019,"about_ca_topic_score_gemma":0.003970465,"domain_scores_codex":[0.9999101,0.00001504748,0.000007306987,0.00001944073,0.00002939749,0.00001869887],"domain_scores_gemma":[0.9998636,0.00002163363,0.00007074748,0.000006453655,0.00001014369,0.00002732541],"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":[0.001751594,0.0001317051,0.01821373,0.0003156535,0.0002625679,0.0382772,0.0003471063,0.0007767446,0.8453908,0.002740504,0.003149488,0.08864298],"study_design_scores_gemma":[0.0009288857,0.001570612,0.5238077,0.0002892163,0.0006669127,0.2075404,0.0005133146,0.003666555,0.170995,0.005631079,0.08426976,0.0001205781],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9809877,0.004824475,0.00501048,0.0005290572,0.00007975843,0.00007176578,0.0007316715,0.0003164034,0.00744882],"genre_scores_gemma":[0.9939028,0.001249974,0.001394018,0.00009271739,0.0000361593,0.00002449346,0.0006077602,0.00001497978,0.00267711],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002587019,"threshold_uncertainty_score":0.006982803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005724498746507913,"score_gpt":0.217038207417752,"score_spread":0.211313708671244,"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."}}