{"id":"W2094319747","doi":"10.1016/j.gene.2014.01.015","title":"Two novel mutations in glucocerebrosidase, C23W and IVS7−1 G&gt;A, identified in Type 1 Gaucher patients heterozygous for N370S","year":2014,"lang":"en","type":"article","venue":"Gene","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Mount Sinai Hospital; Jacobs (Canada); University of Victoria","funders":"","keywords":"Glucocerebrosidase; Biology; Point mutation; Genetics; Compound heterozygosity; Mutation; Exon; Intron; Molecular biology; Loss of heterozygosity; Phenotype; Gene; Allele","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":[0.0002262018,0.003004191,0.0009371954,0.002284633,0.0008870427,0.0007779862,0.001405489,0.003575923,0.002377914],"category_scores_gemma":[0.001337894,0.0005770095,0.001310289,0.001295358,0.00170141,0.0004540676,0.0007226439,0.0007361223,0.0008295595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009734659,"about_ca_system_score_gemma":0.0007830261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003655104,"about_ca_topic_score_gemma":0.003548512,"domain_scores_codex":[0.9995814,0.00002807128,0.00006753972,0.0001305663,0.00008834212,0.0001040781],"domain_scores_gemma":[0.999254,0.0001873065,0.0002389752,0.00003299013,0.00004379841,0.0002428151],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001032027,0.0001799482,0.02435604,0.0001074612,0.0001316312,0.8539332,0.0009727876,0.0005542433,0.11113,0.0009504482,0.000732778,0.005919485],"study_design_scores_gemma":[0.0004105966,0.0007856537,0.09157769,0.00006655691,0.0003730645,0.8407079,0.0006074687,0.001545089,0.05838975,0.00133227,0.004033149,0.0001707597],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964252,0.0006581406,0.0007222823,0.0001820792,0.0001178303,0.00004953431,0.000496942,0.00006435121,0.001283641],"genre_scores_gemma":[0.9976128,0.0001563035,0.0007045955,0.000107691,0.00004115505,0.00002344772,0.0002770147,0.00002930842,0.00104774],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003655104,"threshold_uncertainty_score":0.007954955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02781494772169106,"score_gpt":0.316564715159909,"score_spread":0.288749767438218,"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."}}