{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000172038,0.0001041523,0.0001648997,0.00002613654,0.00006135585,0.0000191516,0.0001914167,0.00007345898,0.00001183268],"category_scores_gemma":[0.0004975579,0.00008675785,0.00002338193,0.0001193533,0.00008747375,0.000004271165,0.0001801055,0.0001654962,0.000005565637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002266302,"about_ca_system_score_gemma":0.00009959455,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008695666,"about_ca_topic_score_gemma":0.0007012662,"domain_scores_codex":[0.9989825,0.00009919591,0.0001888772,0.0002870892,0.0002737975,0.0001685786],"domain_scores_gemma":[0.9992903,0.00004506417,0.00008847006,0.000388163,0.0001176859,0.00007025576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006270852,0.0008300786,0.8835597,0.00000616652,0.0001809957,0.00001125015,0.0008446352,0.00003329801,0.1141923,0.0000079868,0.00007088485,0.0001999828],"study_design_scores_gemma":[0.001152975,0.0005133166,0.9361566,0.00005620172,0.00006586372,0.000001105955,0.001035337,0.0002585334,0.06040712,0.0001914184,0.00001980355,0.0001417591],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974247,0.001413143,0.00003216887,0.0000657495,0.00002259328,0.0003672016,0.00004432707,0.000006102789,0.0006240427],"genre_scores_gemma":[0.9988893,0.0001080771,0.0005679083,0.00003529469,0.0002058713,0.00002181815,0.00004498146,0.00001798792,0.0001087316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0537852,"threshold_uncertainty_score":0.3537883,"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."}}