{"id":"W2157108110","doi":"10.1136/jmg.2010.077180","title":"<i>SOD1</i>, <i>ANG</i>, <i>VAPB</i>, <i>TARDBP</i>, and <i>FUS</i> mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations","year":2010,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":296,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal","funders":"Association pour la Recherche sur la Sclérose Latérale Amyotrophique et autres Maladies du Motoneurone","keywords":"TARDBP; Amyotrophic lateral sclerosis; Missense mutation; Genetics; Mutation; SOD1; Biology; Phenotype; Genotype; Gene; 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":[0.0005823011,0.0004683486,0.000245538,0.0009014807,0.0002780129,0.0003701693,0.0001934198,0.0004175058,0.001283691],"category_scores_gemma":[0.001369606,0.0001881139,0.0002050857,0.000453278,0.0002371654,0.0002028563,0.000223249,0.0002161628,0.0002765737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001831543,"about_ca_system_score_gemma":0.0001275881,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001188057,"about_ca_topic_score_gemma":0.001059469,"domain_scores_codex":[0.9997386,0.00006051502,0.00003050275,0.00008857478,0.00004911477,0.00003263248],"domain_scores_gemma":[0.998835,0.000352499,0.0005143295,0.00005180597,0.0001055866,0.0001406614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002665339,0.00002755176,0.9912069,0.00001440129,0.00007087883,0.0005886309,0.00009909203,0.0001381353,0.004741823,0.00001280989,0.00007595803,0.002757194],"study_design_scores_gemma":[0.00001401048,0.0001679948,0.9957066,0.000005909487,0.00007444705,0.002730007,0.00005586051,0.0002435702,0.0008062035,0.00002810341,0.0001638486,0.000003463264],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996871,0.0001280192,0.0000528948,0.000008785435,8.962527e-7,0.000001823156,0.00003922996,0.00000354675,0.00007769829],"genre_scores_gemma":[0.9996425,0.00007092887,0.0001056138,0.000006480613,0.000003797908,0.000002317975,0.0001207578,0.000001587599,0.00004599712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001283691,"threshold_uncertainty_score":0.004294395,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02499724181662158,"score_gpt":0.2952476937139239,"score_spread":0.2702504518973023,"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."}}