{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001307533,0.0007595608,0.00027815,0.0009798678,0.0001730908,0.0002131303,0.0002491211,0.0007511159,0.00124518],"category_scores_gemma":[0.0002552864,0.0001233866,0.0002464583,0.0002744898,0.0003735024,0.0002203492,0.0003139374,0.000364226,0.0002857456],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001299546,"about_ca_system_score_gemma":0.00009022599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002167655,"about_ca_topic_score_gemma":0.0002338063,"domain_scores_codex":[0.9999201,0.0000143688,0.00001301884,0.0000227416,0.0000155998,0.00001408978],"domain_scores_gemma":[0.99989,0.00003216184,0.00002597837,0.000008974427,0.00001359462,0.00002931392],"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":[0.0005788112,0.00009917772,0.01045091,0.00008959199,0.00002632229,0.06030097,0.0001869194,0.0001738853,0.9198151,0.0004676586,0.0002289656,0.007581678],"study_design_scores_gemma":[0.0001279331,0.001299187,0.2061349,0.0001160467,0.0002545363,0.4347156,0.0007319619,0.005161704,0.33704,0.002996836,0.0113527,0.00006870085],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957299,0.0009580566,0.001641143,0.0002592261,0.00002702667,0.00001159801,0.0002465345,0.0000621718,0.001064244],"genre_scores_gemma":[0.9969643,0.0007824496,0.001558842,0.0001241805,0.00004133588,0.000007457945,0.0001856594,0.00001540163,0.0003203807],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00124518,"threshold_uncertainty_score":0.00416553,"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."}}