{"id":"W2932473685","doi":"","title":"No Hot Spot Mutations <i>CHRNE</i> c.1327 delG, <i>CHAT</i> c.914T>C, and <i>RAPSN</i> c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.","year":2019,"lang":"en","type":"article","venue":"PubMed","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Concordia University","funders":"","keywords":"Congenital myasthenic syndrome; Ptosis; Repetitive nerve stimulation; Medicine; Myasthenia gravis; Genetics; Gene; Compound heterozygosity; Genetic analysis; Mutation testing; Mutation; Biology; Internal medicine; Ophthalmology","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":[0.0001619494,0.0003364609,0.0001645647,0.0005895405,0.0003316787,0.0002896553,0.0002895982,0.0005467075,0.002012139],"category_scores_gemma":[0.0008547975,0.0001544388,0.0002159391,0.0003347522,0.0003942446,0.0001803144,0.0001823463,0.0002252466,0.0002218879],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001900966,"about_ca_system_score_gemma":0.0003448876,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001855087,"about_ca_topic_score_gemma":0.002378416,"domain_scores_codex":[0.9998235,0.00002261721,0.00002217836,0.00005510091,0.00003533652,0.00004139758],"domain_scores_gemma":[0.9997309,0.00006944587,0.00007809923,0.00002155746,0.00003102822,0.00006908856],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006103402,0.0001121358,0.8941134,0.000102167,0.00007272972,0.04648351,0.0006778215,0.000289115,0.04126889,0.0002355926,0.0006296805,0.01540467],"study_design_scores_gemma":[0.00009561589,0.0005651868,0.80308,0.00004775912,0.0001446498,0.184806,0.000810594,0.0007086959,0.007387179,0.000366843,0.001959756,0.00002753913],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988968,0.0002471432,0.0001195479,0.00006490925,0.000009967208,0.000006205257,0.00007281335,0.00000775828,0.0005747995],"genre_scores_gemma":[0.9996225,0.00006077494,0.000109879,0.00002459289,0.000007533935,0.00000284095,0.0000671395,0.000001380305,0.0001034683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002012139,"threshold_uncertainty_score":0.006731272,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00596559867611879,"score_gpt":0.1803379466331673,"score_spread":0.1743723479570485,"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."}}