{"id":"W2789348748","doi":"10.1016/j.ymgmr.2018.01.007","title":"Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders","year":2018,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Phenotype; Mutation; Genetics; Gene; Biology; Endocrinology; Internal medicine; Medicine","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":[0.0001973063,0.0001699713,0.0003438032,0.0001146181,0.00007522995,0.000015959,0.00005244777,0.00009471484,0.000103522],"category_scores_gemma":[0.00005894403,0.0001383742,0.00006188934,0.000309886,0.0002808929,0.00004166199,0.00006881162,0.0001108264,0.000003549233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001444564,"about_ca_system_score_gemma":0.0001097082,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009740314,"about_ca_topic_score_gemma":0.00001825773,"domain_scores_codex":[0.998431,0.00003914175,0.0003694919,0.0003804713,0.0005289998,0.0002509312],"domain_scores_gemma":[0.9990004,0.00000403972,0.0001735235,0.0004482982,0.0002083384,0.0001653854],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009035973,0.00109349,0.130507,0.0003382713,0.001700574,0.004478541,0.002668406,0.00003517067,0.7421734,0.001063146,0.0005359767,0.1145023],"study_design_scores_gemma":[0.004955471,0.001850437,0.737777,0.0001629132,0.0009916479,0.004853939,0.00034995,0.0004283164,0.2181047,0.002390275,0.02746917,0.000666199],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860803,0.01062937,0.0003958047,0.0001724248,0.0001384113,0.000585644,0.000004563864,0.00002393453,0.001969473],"genre_scores_gemma":[0.9965596,0.000828066,0.002207982,0.00006864165,0.00001646252,0.00001527789,0.00007793749,0.00004022734,0.0001857859],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6072699,"threshold_uncertainty_score":0.5642737,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006179129168042427,"score_gpt":0.247004523808104,"score_spread":0.2408253946400616,"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."}}