{"id":"W2108824904","doi":"10.1086/338933","title":"A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13","year":2002,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"Health Sciences Centre; Memorial University of Newfoundland; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Atlantic Canada Opportunities Agency","keywords":"Locus (genetics); Haplotype; Genetics; Spasticity; Genetic linkage; Ataxia; Spastic; Movement disorders; Dysarthria; Biology; Allele; Gene; Medicine; Disease; Pathology; Neuroscience; Cerebral palsy; Audiology","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":[0.0001593337,0.0007050215,0.0005770617,0.0008610512,0.0005910807,0.0004457358,0.0004171022,0.0006519858,0.002389557],"category_scores_gemma":[0.0003330586,0.0002782089,0.0002407946,0.0006116926,0.00031607,0.0001686722,0.0004172225,0.0005200543,0.001061928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004695996,"about_ca_system_score_gemma":0.0003068016,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001285397,"about_ca_topic_score_gemma":0.002170584,"domain_scores_codex":[0.999925,0.000008793822,0.000006658385,0.00001727411,0.00003113236,0.00001107309],"domain_scores_gemma":[0.9997265,0.00006799178,0.00009256879,0.00001555258,0.00003120187,0.00006613952],"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":[0.001756356,0.0001506962,0.02036804,0.0001976684,0.00009376244,0.01620282,0.0003615369,0.001077999,0.9039106,0.001942062,0.002321166,0.05161718],"study_design_scores_gemma":[0.0005603537,0.0009035603,0.3820826,0.0002187571,0.00037736,0.05507452,0.0005896633,0.006658695,0.5111594,0.004608252,0.03765941,0.0001073351],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820758,0.002042192,0.008548914,0.0003109763,0.00007658704,0.00005137537,0.00142524,0.0005254444,0.004943497],"genre_scores_gemma":[0.9788651,0.001100229,0.007044592,0.0001116842,0.00004001817,0.00007650851,0.003062289,0.00005812939,0.009641353],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002389557,"threshold_uncertainty_score":0.007993817,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03607094286561018,"score_gpt":0.2790471450372799,"score_spread":0.2429762021716697,"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."}}