{"id":"W2168033741","doi":"10.1186/2053-8871-1-8","title":"Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum","year":2014,"lang":"en","type":"article","venue":"Cerebellum & Ataxias","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier universitaire de Québec; Université de Montréal; McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"University of Toronto; McGill University; Canadian Institutes of Health Research; University of Ottawa","keywords":"Exome sequencing; Atrophy; Cerebellar ataxia; Ataxia; Sister; Genetics; Cerebellum; Global developmental delay; Medicine; Phenotype; Pediatrics; Pathology; Biology; Gene; Internal medicine; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001963466,0.001423454,0.0004750525,0.001366676,0.002877342,0.0006667751,0.0006696268,0.001493147,0.00297606],"category_scores_gemma":[0.001063997,0.0002907066,0.0004690755,0.00123141,0.0009106455,0.0001744054,0.000692379,0.0006438249,0.0002861502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002727245,"about_ca_system_score_gemma":0.002958827,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.40468,"about_ca_topic_score_gemma":0.4903536,"domain_scores_codex":[0.9996356,0.00001999072,0.0000239692,0.0001202761,0.0001162172,0.00008394958],"domain_scores_gemma":[0.9996892,0.0000958505,0.00003801581,0.00001335905,0.0000588952,0.0001046552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004000377,0.0001464792,0.09346629,0.0001229858,0.00008684334,0.8045498,0.007653446,0.000903509,0.07519018,0.001311938,0.001572586,0.01459599],"study_design_scores_gemma":[0.00008412421,0.0002567493,0.418708,0.00006934939,0.0002011031,0.5555614,0.002682958,0.001800017,0.01242439,0.0003048902,0.007814053,0.0000929582],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950895,0.0002955762,0.0005186663,0.0003812069,0.0000225328,0.00003886408,0.0006831329,0.00003389452,0.002936673],"genre_scores_gemma":[0.9967283,0.0002084021,0.000837624,0.0001482097,0.00001457847,0.00001150018,0.0002781265,0.00001449284,0.001758748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.59532,"threshold_uncertainty_score":0.804649,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02066478493889246,"score_gpt":0.2418978110009376,"score_spread":0.2212330260620452,"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."}}