{"id":"W2901766773","doi":"10.1016/j.pediatrneurol.2018.11.007","title":"PLCB1 Biallelic Point Mutations Cause West Syndrome","year":2018,"lang":"en","type":"letter","venue":"Pediatric Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"McGill University","keywords":"Epilepsy; Medicine; Scopus; Genetics; Pediatrics; Biology; Psychiatry; MEDLINE","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00008134598,0.0004058632,0.0003518926,0.0002368402,0.0001398061,0.00003791088,0.0005037679,0.001151077,0.0001895233],"category_scores_gemma":[0.0000967099,0.0004093685,0.000256738,0.0001434663,0.0001572177,0.000002546406,0.000287951,0.0007019042,0.00051556],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009207362,"about_ca_system_score_gemma":0.0002793613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003909173,"about_ca_topic_score_gemma":0.00002777763,"domain_scores_codex":[0.9977923,0.000162405,0.0003861718,0.0008978653,0.000167487,0.0005937538],"domain_scores_gemma":[0.998686,0.00005423556,0.0002439602,0.0007593458,0.0001323759,0.0001241181],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00003098115,0.00004735264,0.001136926,0.00005989967,0.00008244372,0.002454414,0.00000977165,0.00001060623,0.0001845118,0.000002778042,0.9959477,0.00003260579],"study_design_scores_gemma":[0.0004927554,0.001075638,0.003627781,0.000001547749,0.0004047535,0.002861749,0.000001840765,0.000005198148,0.0000506914,0.0001906826,0.9907045,0.0005829057],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.7901722,0.001860323,0.00004924628,0.2026464,0.003036687,0.0005514158,0.000748271,0.00007037951,0.0008650384],"genre_scores_gemma":[0.3097613,0.001865762,0.00009535997,0.6509886,0.02838844,0.0001471353,0.005904284,0.0002250271,0.002624045],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.4804109,"threshold_uncertainty_score":0.9998358,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01024851754483124,"score_gpt":0.2266689185918862,"score_spread":0.2164204010470549,"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."}}