{"id":"W1939617308","doi":"10.1371/journal.pone.0127045","title":"Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry","year":2015,"lang":"en","type":"article","venue":"PLoS ONE","topic":"ATP Synthase and ATPases Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":76,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of General Medical Sciences; Université du Luxembourg; Syracuse University","keywords":"Missense mutation; Sanger sequencing; Medicine; Mutation; Phenotype; Genotype; Genetics; Retrospective cohort study; Pediatrics; Biology; Internal medicine; Gene","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":[0.0006546698,0.0002945286,0.0004524411,0.001322814,0.0006045607,0.000471851,0.000344974,0.0003938282,0.0009574225],"category_scores_gemma":[0.002258489,0.0004345263,0.0003079958,0.001393585,0.0003669249,0.0003805598,0.0004135883,0.0003542914,0.0003686689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004678643,"about_ca_system_score_gemma":0.0004355851,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01045856,"about_ca_topic_score_gemma":0.01083267,"domain_scores_codex":[0.9990528,0.0001810098,0.0001413811,0.0003028209,0.0001817299,0.0001402875],"domain_scores_gemma":[0.998404,0.000266701,0.0006467836,0.0002815299,0.0002420036,0.0001591345],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004256355,0.00001255168,0.9986221,0.000004831007,0.00001839673,0.0002915809,0.00008863016,0.0000229688,0.0001748192,0.000008471682,0.0001020715,0.0006110111],"study_design_scores_gemma":[0.000006186751,0.00006619465,0.9980933,0.00000411462,0.00001630509,0.001309875,0.0001399565,0.00006910787,0.0000845992,0.000008017368,0.0001993077,0.000003096754],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990786,0.00008164854,0.00006542588,0.000009181205,0.000001447192,0.000009937281,0.0005894408,0.000003430118,0.0001609095],"genre_scores_gemma":[0.9981397,0.00009549735,0.0001268467,0.00002454229,0.000005785888,0.00002043728,0.001500959,0.000003903684,0.00008236776],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01045856,"threshold_uncertainty_score":0.02079535,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0341795907677348,"score_gpt":0.2646833631247997,"score_spread":0.2305037723570649,"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."}}