{"id":"W4389574699","doi":"10.3390/cimb45120619","title":"A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency","year":2023,"lang":"en","type":"review","venue":"Current Issues in Molecular Biology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Gachon University; Seoul National University; National Research Foundation; National Research Foundation of Korea; Seoul National University Bundang Hospital","keywords":"Haploinsufficiency; Proband; Genetics; Biology; Ataxia; Sanger sequencing; Mutation; Exome sequencing; Phenotype; Gene; Neuroscience","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001140187,0.0007969721,0.0003088406,0.0004306815,0.000266785,0.0002109937,0.0001816823,0.0006300411,0.001799004],"category_scores_gemma":[0.000393865,0.0001277823,0.0003828375,0.0003283056,0.000337212,0.0001515208,0.0001905359,0.0002475983,0.0005025316],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002392086,"about_ca_system_score_gemma":0.0002152345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002061372,"about_ca_topic_score_gemma":0.002754923,"domain_scores_codex":[0.9999148,0.000009037425,0.00001460737,0.00003118927,0.00001442474,0.00001595827],"domain_scores_gemma":[0.999793,0.00004477016,0.00007249983,0.000009760734,0.00001957214,0.00006053291],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001005022,0.0001622433,0.100975,0.0003505882,0.0001643171,0.4165015,0.0008709973,0.0007177378,0.4579661,0.0009337239,0.001144779,0.01920805],"study_design_scores_gemma":[0.0001740081,0.001217324,0.4347816,0.0001343201,0.0003670731,0.4474507,0.0005989436,0.003934701,0.0965516,0.0007175874,0.01395326,0.0001190015],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9976755,0.0003761846,0.0009352671,0.0000719711,0.00003794962,0.00001837951,0.0002115122,0.00004446931,0.0006287793],"genre_scores_gemma":[0.9986583,0.0001209766,0.0004648162,0.00004299363,0.00002057599,0.000003766658,0.000164198,0.000009056057,0.0005152866],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.002061372,"threshold_uncertainty_score":0.006018341,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1096955581847181,"score_gpt":0.4256877726682532,"score_spread":0.315992214483535,"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."}}