{"id":"W2020855699","doi":"10.1111/j.1399-0004.2011.01761.x","title":"Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form","year":2011,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Neuronal ceroid lipofuscinosis; Batten disease; Biology; Genetics; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0007371415,0.0009352873,0.001507782,0.0008981622,0.001238312,0.001078884,0.0009678316,0.01058064,0.004284158],"category_scores_gemma":[0.005253967,0.0002614699,0.001057379,0.0004587443,0.0008403086,0.001642748,0.0004488255,0.006629264,0.001497571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001624436,"about_ca_system_score_gemma":0.0006352415,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001857379,"about_ca_topic_score_gemma":0.001889514,"domain_scores_codex":[0.9991319,0.000170404,0.0001107409,0.0002418684,0.0001557271,0.0001894855],"domain_scores_gemma":[0.9988971,0.0004712512,0.00008862641,0.00007980733,0.0002535191,0.000209704],"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":[0.0004439119,0.0001112694,0.005245234,0.0001249397,0.00004508855,0.9005101,0.0004070291,0.0002063774,0.002720578,0.005637965,0.07174084,0.01280674],"study_design_scores_gemma":[0.0001973929,0.0002380163,0.009655289,0.0001368193,0.0001040857,0.9184772,0.0004491853,0.001772723,0.001585547,0.007410517,0.05989747,0.00007586549],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1520643,0.008283622,0.004342226,0.7446318,0.04960845,0.0003135572,0.001138351,0.0004887772,0.039129],"genre_scores_gemma":[0.6371545,0.006496687,0.005949051,0.2186216,0.0771858,0.0002139887,0.0005655843,0.0002467052,0.0535662],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01058064,"threshold_uncertainty_score":0.01433188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07740679991242787,"score_gpt":0.3624409117077522,"score_spread":0.2850341117953243,"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."}}