{"id":"W2073886406","doi":"10.1182/blood-2007-02-077099","title":"The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption","year":2007,"lang":"en","type":"article","venue":"Blood","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":152,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Cancer Institute","keywords":"Solute carrier family; Exon; Gene; Mutation; Genetics; Biology; Malabsorption; Transporter; Loss function; Membrane transport protein; Phenotype; Endocrinology","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":[0.0001775045,0.0006332721,0.0003495752,0.001106978,0.0003200852,0.0002077196,0.0001701869,0.0004569656,0.001685742],"category_scores_gemma":[0.0007145658,0.0001397716,0.0002104518,0.0003335105,0.000388342,0.0001981732,0.0002983923,0.000209207,0.0001850309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001495334,"about_ca_system_score_gemma":0.0001173076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005229872,"about_ca_topic_score_gemma":0.0004452254,"domain_scores_codex":[0.999804,0.00003394959,0.00002538745,0.00003676704,0.0000554034,0.00004453435],"domain_scores_gemma":[0.9998,0.00007208227,0.00004581544,0.000008621521,0.00001752202,0.00005600394],"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":[0.001927052,0.0002956557,0.3058306,0.0002805846,0.0002731827,0.2302185,0.0008908408,0.0006443427,0.3336923,0.002585587,0.002280548,0.1210808],"study_design_scores_gemma":[0.0001206023,0.000925504,0.2919392,0.00009276641,0.00025133,0.6634316,0.0003682633,0.0007407461,0.03535464,0.001312124,0.005436027,0.00002725351],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948419,0.001457008,0.001261316,0.0001202627,0.0000101889,0.00001445409,0.0001110364,0.00004628937,0.002137505],"genre_scores_gemma":[0.9984993,0.0004118012,0.0006025709,0.00004901975,0.00001701574,0.000003582046,0.00008531709,0.000005501479,0.0003259525],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001685742,"threshold_uncertainty_score":0.005639374,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05605802457824592,"score_gpt":0.3207106848903029,"score_spread":0.2646526603120569,"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."}}