{"id":"W4389557994","doi":"10.21203/rs.3.rs-3706837/v1","title":"Genotype-Phenotype Correlation in CLCN4-Related Developmental and Epileptic Encephalopathy","year":2023,"lang":"en","type":"preprint","venue":"Research Square","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Deutsche Forschungsgemeinschaft","keywords":"Brainstem; Phenotype; Epilepsy; Corpus callosum; Microcephaly; Corpus Callosum Agenesis; Biology; Neuroscience; Channelopathy; Zebrafish; Cell biology; Internal medicine; Medicine; Genetics; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003724802,0.0009669026,0.0005419473,0.001760797,0.0004138348,0.0004997522,0.0004525947,0.0009252478,0.008344107],"category_scores_gemma":[0.002714425,0.0002046782,0.0003568966,0.001120313,0.0003982163,0.0003120691,0.0005988163,0.0003260001,0.00108815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002966122,"about_ca_system_score_gemma":0.0002810972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001211899,"about_ca_topic_score_gemma":0.0008685304,"domain_scores_codex":[0.9993771,0.000100452,0.0001593932,0.0001767387,0.0001123832,0.00007403995],"domain_scores_gemma":[0.9984298,0.000709179,0.0004601843,0.00008836912,0.0001549461,0.0001574929],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003154762,0.000204767,0.7854356,0.0002405682,0.0002855129,0.1365127,0.0006227499,0.000777129,0.04718536,0.0006090211,0.002039423,0.02293245],"study_design_scores_gemma":[0.00009988625,0.0004647621,0.795725,0.0001014983,0.0003224829,0.1777419,0.0004866885,0.00142653,0.01641894,0.0007719888,0.006388506,0.0000517039],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959591,0.0004676224,0.0006907785,0.0001694828,0.00003149408,0.00003122709,0.001046405,0.00004010131,0.001563758],"genre_scores_gemma":[0.9969547,0.0002680035,0.0005861084,0.00009904214,0.00004388367,0.00002036931,0.001283746,0.00003299797,0.0007113055],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008344107,"threshold_uncertainty_score":0.02791387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05043706802661229,"score_gpt":0.3405185110626271,"score_spread":0.2900814430360148,"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."}}