{"id":"W1987735559","doi":"10.1111/j.1469-1809.2009.00546.x","title":"A Mutation that Creates a Pseudoexon in <i>SOD1</i> Causes Familial ALS","year":2009,"lang":"en","type":"article","venue":"Annals of Human Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"","keywords":"Exon; Amyotrophic lateral sclerosis; Genetics; SOD1; Biology; Intron; Gene; Locus (genetics); Mutation; Medicine; Disease; Pathology","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":[0.0002273282,0.000768014,0.0002296661,0.0004099063,0.0003149883,0.0002020948,0.0002877665,0.0006141031,0.002186315],"category_scores_gemma":[0.0003395699,0.0001860488,0.0003173581,0.000169816,0.0004663248,0.0001217561,0.0003136538,0.0004953088,0.0007012449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001774994,"about_ca_system_score_gemma":0.0001163236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003248364,"about_ca_topic_score_gemma":0.0004051481,"domain_scores_codex":[0.9998596,0.00003999477,0.0000171834,0.00002811886,0.00003268066,0.00002241901],"domain_scores_gemma":[0.9996756,0.000120333,0.00010223,0.0000209467,0.00001768123,0.00006322275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009901199,0.0005554143,0.02811564,0.000176833,0.0001437623,0.07854919,0.0004387324,0.000708363,0.8705817,0.001343592,0.002181718,0.01621492],"study_design_scores_gemma":[0.0006621245,0.002863272,0.2207344,0.0001583118,0.0004220596,0.3922526,0.0004764194,0.006410004,0.3423793,0.001741418,0.03178708,0.0001128605],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971896,0.0001568627,0.001031043,0.0001061525,0.00003877366,0.00002771848,0.00009484417,0.00007200544,0.001283174],"genre_scores_gemma":[0.9978099,0.0001462898,0.0009335479,0.0001097042,0.00004207963,0.00001237804,0.0001774659,0.0000249644,0.0007436994],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002186315,"threshold_uncertainty_score":0.007313967,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1370918794286901,"score_gpt":0.3964849752315526,"score_spread":0.2593930958028625,"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."}}