{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001115657,0.001071671,0.0002656132,0.0008088397,0.0002988951,0.0002265311,0.0002629877,0.0004920798,0.001959945],"category_scores_gemma":[0.0004843315,0.0001744495,0.0002529511,0.0002696246,0.0006267739,0.0001524904,0.0005636124,0.0003892718,0.0003274641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002594767,"about_ca_system_score_gemma":0.0003063765,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001124815,"about_ca_topic_score_gemma":0.001262167,"domain_scores_codex":[0.9998965,0.00001492574,0.000009495306,0.00002961014,0.00002944934,0.00001997806],"domain_scores_gemma":[0.9998571,0.00003683898,0.00004389243,0.00001174408,0.000008989054,0.00004149027],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005304068,0.00009913532,0.05167446,0.0001522297,0.00009369158,0.6808328,0.001357726,0.0005386359,0.2411587,0.001430175,0.0008603717,0.02127162],"study_design_scores_gemma":[0.000097271,0.0001705327,0.09535286,0.0000395676,0.00008857378,0.8654881,0.0002565077,0.0006053747,0.03244068,0.0005578803,0.004873719,0.00002895253],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934465,0.0005265796,0.001527004,0.0002496355,0.0000179597,0.00002769017,0.0002560162,0.0001160892,0.003832428],"genre_scores_gemma":[0.9973994,0.0002573965,0.001002716,0.00008745738,0.00001925518,0.00001484768,0.0001425164,0.00001358431,0.001062757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001959945,"threshold_uncertainty_score":0.00655669,"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."}}