{"id":"W1975606849","doi":"10.1016/j.ajhg.2007.11.006","title":"Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders","year":2008,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":142,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Acetylcholine receptor; Sequence (biology); Neuroscience; Genetics; Receptor; Biology; Computational biology","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":[0.0002079696,0.0001120979,0.0001350949,0.00006848079,0.0002752526,0.00001617474,0.0001923877,0.0000341077,0.00002063232],"category_scores_gemma":[0.00003783553,0.00008313028,0.0001048587,0.0001492717,0.0003168091,0.00001017861,0.00003034987,0.0001149152,0.000008302671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002513913,"about_ca_system_score_gemma":0.00008282258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007004443,"about_ca_topic_score_gemma":0.000009648385,"domain_scores_codex":[0.9991106,0.0001157011,0.0003356964,0.00009813251,0.0001996474,0.0001401559],"domain_scores_gemma":[0.9990367,0.0000126498,0.0004953181,0.0001825435,0.000207587,0.00006514703],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003571475,0.0001954768,0.003538782,0.000009846571,0.000156184,0.000005834848,0.003114888,0.02755668,0.9183056,0.0001357949,0.003331149,0.04329262],"study_design_scores_gemma":[0.009895965,0.02342316,0.1196061,0.0001472896,0.0004222121,0.006817958,0.01599925,0.01706276,0.5745698,0.003075457,0.2259758,0.003004317],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9834384,0.0001596937,0.01558973,0.0003750357,0.0002297928,0.00008206311,0.000007149507,0.000006197559,0.0001119142],"genre_scores_gemma":[0.9972682,0.0004273263,0.001270577,0.0002402777,0.0005251571,0.000003428909,0.0000598089,0.00001655884,0.0001886952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3437358,"threshold_uncertainty_score":0.3389955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01870806304869299,"score_gpt":0.2617786069195396,"score_spread":0.2430705438708466,"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."}}