{"id":"W2160540953","doi":"10.1136/jmedgenet-2013-102012","title":"<i>KIF1C</i> mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction","year":2013,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":83,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Nautical Research Society","funders":"","keywords":"Missense mutation; Hereditary spastic paraplegia; Genetics; Nonsense mutation; Disease gene identification; Cerebellar ataxia; Exome sequencing; Biology; Mutation; Locus (genetics); Ataxia; Gene; Phenotype; Neuroscience","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002666643,0.000136961,0.000231728,0.0001449229,0.000058887,0.00003824672,0.0002627816,0.00008965722,0.0003761599],"category_scores_gemma":[0.001415382,0.0000943885,0.0000375056,0.0003090182,0.0003599664,0.0001519124,0.00005675334,0.0005101871,0.00002370085],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001364592,"about_ca_system_score_gemma":0.0001218797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004458742,"about_ca_topic_score_gemma":0.00009542873,"domain_scores_codex":[0.9977864,0.0002192932,0.0004670071,0.0002020146,0.001066893,0.0002584055],"domain_scores_gemma":[0.9986049,0.0007132844,0.000155045,0.0001148308,0.00007174662,0.0003401971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00119779,0.003738711,0.4642211,0.0004528725,0.000181054,0.01186198,0.003727739,0.04584847,0.07163227,0.0007843701,0.03682837,0.3595252],"study_design_scores_gemma":[0.01662225,0.008307328,0.8551865,0.0006004198,0.0002911331,0.00714853,0.004350204,0.06113134,0.01474756,0.01798236,0.01227812,0.001354327],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930709,0.000406533,0.000923759,0.004797105,0.000316828,0.0001490515,0.000002834136,0.00001208707,0.000320929],"genre_scores_gemma":[0.9957353,0.001291948,0.0005646538,0.002187453,0.0001859135,0.000005854659,5.860084e-7,0.00001399626,0.00001429394],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3909653,"threshold_uncertainty_score":0.4118688,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01918258309425036,"score_gpt":0.2618280780666484,"score_spread":0.242645494972398,"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."}}