{"id":"W4280645225","doi":"10.3390/genes13050893","title":"New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Endoplasmic Reticulum Stress and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Universität Duisburg-Essen; European Regional Development Fund; Association Française contre les Myopathies","keywords":"Phenotype; Biology; Serine; Genetics; Cell biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004721823,0.00005206179,0.00006456924,0.00003457499,0.00003493014,0.000002447185,0.00009271431,0.00001873825,0.00004212595],"category_scores_gemma":[0.00001548141,0.00004164461,0.00005093422,0.0001044508,0.00002288508,0.000001450551,0.00007845506,0.00003261185,5.885399e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000055962,"about_ca_system_score_gemma":0.00007048568,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002566609,"about_ca_topic_score_gemma":0.0001811934,"domain_scores_codex":[0.9995192,0.00006298585,0.0001360632,0.0001219872,0.00009467613,0.00006514549],"domain_scores_gemma":[0.9997226,0.000007811409,0.00007031636,0.0001652969,0.00001225575,0.0000217373],"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":[0.000294106,0.00007762347,0.008632873,0.00002951099,0.00003039795,0.000006007948,0.0005386329,0.009399827,0.9683552,0.0005336388,0.0004985483,0.01160368],"study_design_scores_gemma":[0.001012378,0.0007160328,0.03472714,0.000006636476,0.00004124949,0.000008904457,0.0008916329,0.0005836461,0.9490535,0.002983747,0.009838336,0.0001367704],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952757,0.003687675,0.0005259992,0.0001176006,0.0001065267,0.00009105762,0.000003748531,0.000001985678,0.0001896907],"genre_scores_gemma":[0.999502,0.0001583371,0.00005303904,0.00005709061,0.00004536248,0.00001455628,0.00004211186,0.000005715729,0.0001218062],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02609426,"threshold_uncertainty_score":0.1698218,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005368183741282031,"score_gpt":0.2129015488723643,"score_spread":0.2075333651310823,"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."}}