{"id":"W1965989861","doi":"10.1007/s10038-006-0001-9","title":"Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype","year":2006,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital Notre-Dame","funders":"Fundação para a Ciência e a Tecnologia; Canadian Institutes of Health Research","keywords":"PRNP; Genetics; Biology; Gene; Human genetics; Phenotype; Trinucleotide repeat expansion; Allele","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":[0.0002470371,0.0006947546,0.0004664182,0.0009667142,0.0007800013,0.0004365738,0.0002984099,0.00075802,0.001206691],"category_scores_gemma":[0.002010269,0.0003454394,0.0004513182,0.0004714691,0.0006421963,0.000201481,0.0003347902,0.0002845326,0.0002480411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003732711,"about_ca_system_score_gemma":0.0003654344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005990625,"about_ca_topic_score_gemma":0.005651981,"domain_scores_codex":[0.9997495,0.00003440344,0.0000324057,0.00007274004,0.00005332006,0.00005770532],"domain_scores_gemma":[0.9995781,0.0001357748,0.0001179679,0.00004071368,0.00004051796,0.00008698076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002476541,0.0003551013,0.8575496,0.0002438957,0.0001994189,0.05303136,0.002883626,0.0003876985,0.05883504,0.0002232722,0.0003453888,0.0234689],"study_design_scores_gemma":[0.0001644578,0.0007989869,0.9024767,0.00008299253,0.0002103109,0.0883852,0.0008454435,0.000688049,0.004285932,0.0002274994,0.001790828,0.00004361544],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993766,0.0001287843,0.00005825299,0.00001685097,0.000002177331,0.000006135704,0.00007870069,0.000002404959,0.0003300685],"genre_scores_gemma":[0.9993124,0.0001752598,0.0001758004,0.0000279525,0.000006780304,0.000006498876,0.0001367863,0.000004180117,0.0001543947],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005990625,"threshold_uncertainty_score":0.01191151,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0194676643570816,"score_gpt":0.2706612605207915,"score_spread":0.25119359616371,"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."}}