{"id":"W2536880505","doi":"10.1017/cjn.2016.322","title":"Nonlethal <i>CHRNA1</i>-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation","year":2016,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Peptidase Inhibition and Analysis","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministério da Educação; Agence Nationale de la Recherche; Fondation Maladies Rares","keywords":"Congenital myasthenic syndrome; Content (measure theory); Mutation; Null (SQL); Medicine; Genetics; Biology; Computer science; Mathematics; Gene; Database","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002920868,0.00224038,0.0008060134,0.001446181,0.0008260727,0.0005604524,0.001459124,0.002869105,0.009052115],"category_scores_gemma":[0.001904421,0.0003754284,0.0008055618,0.0006255535,0.002093026,0.0005463447,0.0008032102,0.001695691,0.001256252],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005381887,"about_ca_system_score_gemma":0.0005628539,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001930031,"about_ca_topic_score_gemma":0.001412879,"domain_scores_codex":[0.999499,0.00006671177,0.00008089002,0.0001352402,0.0001191125,0.00009899517],"domain_scores_gemma":[0.9976571,0.001218038,0.000480551,0.0001129129,0.0001190884,0.0004123201],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004496293,0.00009102549,0.005625031,0.0001225607,0.0001065547,0.9199499,0.0002530628,0.0002178991,0.0678113,0.001171367,0.0009491915,0.003252541],"study_design_scores_gemma":[0.0002545974,0.0004196861,0.03402108,0.00006444834,0.0002450016,0.9250212,0.0002373736,0.0009879282,0.03294374,0.0009074881,0.004826795,0.00007061108],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9701554,0.001506475,0.00452597,0.002840672,0.0006288827,0.0001438236,0.001694333,0.000435312,0.01806901],"genre_scores_gemma":[0.9937991,0.0002779788,0.001740064,0.0003914119,0.0002197433,0.00003342555,0.0003402733,0.0001045709,0.003093343],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009052115,"threshold_uncertainty_score":0.03028238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01755740307362467,"score_gpt":0.2446941376329519,"score_spread":0.2271367345593273,"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."}}