{"id":"W1984927769","doi":"10.1002/humu.10207","title":"Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Exon; Genetics; Biology; Neuronal ceroid lipofuscinosis; Mutation; Gene; Point mutation; Batten disease; Gene mutation; Allele; Intron; Molecular biology","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":[0.0001870961,0.001147371,0.0004085244,0.0005897642,0.0006173736,0.0003207579,0.0004735405,0.001212288,0.001745014],"category_scores_gemma":[0.0009853776,0.0002734327,0.0005148918,0.0003130525,0.0006162846,0.0001658524,0.0004356138,0.0005142209,0.0004136803],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004730393,"about_ca_system_score_gemma":0.00034101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001990634,"about_ca_topic_score_gemma":0.002375122,"domain_scores_codex":[0.999738,0.00002958727,0.00003641095,0.00006859947,0.00006173685,0.00006562096],"domain_scores_gemma":[0.9996152,0.0001087933,0.0001000277,0.00002897654,0.00003504404,0.0001119954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005080792,0.000324673,0.03857771,0.0001141688,0.0001057613,0.8135946,0.001467635,0.0004472413,0.1291974,0.0006813764,0.0006521642,0.01432919],"study_design_scores_gemma":[0.0001740525,0.0006587802,0.09386988,0.00004746996,0.0001375267,0.8829535,0.0003111293,0.0007068724,0.0156263,0.0002810294,0.005171784,0.000061694],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969433,0.0003067453,0.000843879,0.0001516681,0.00004099633,0.00002725007,0.0001126905,0.00005294705,0.001520473],"genre_scores_gemma":[0.9965866,0.0001603685,0.001053234,0.0001678717,0.00004398724,0.00001658093,0.0001673274,0.00002416302,0.001779861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001990634,"threshold_uncertainty_score":0.005837679,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04683181578669372,"score_gpt":0.3245138589034932,"score_spread":0.2776820431167995,"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."}}