{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001687186,0.0001204724,0.0001694604,0.00009642182,0.0002695294,0.00002981628,0.0002438334,0.0000661424,0.000007745667],"category_scores_gemma":[0.0001360546,0.00006097622,0.0001438831,0.0002476128,0.0001039549,0.00009726672,0.0000113608,0.0002086813,0.000001429788],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002155688,"about_ca_system_score_gemma":0.00006087961,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001286182,"about_ca_topic_score_gemma":0.002061753,"domain_scores_codex":[0.9988086,0.00005225501,0.0003029432,0.0001859544,0.0002770441,0.0003732004],"domain_scores_gemma":[0.9985119,0.0009115854,0.0001020673,0.000318483,0.0001029742,0.00005303609],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007897794,0.007305758,0.6495999,0.001859614,0.001875418,0.0006086544,0.02323273,0.00008924033,0.2149121,0.009238976,0.001809104,0.08157074],"study_design_scores_gemma":[0.008574573,0.004585518,0.8575078,0.0003858699,0.0009438269,0.0004817901,0.01700322,0.003046024,0.1014501,0.00444686,0.001285763,0.0002887133],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925528,0.0004257947,0.002958708,0.002283427,0.00008410011,0.00143539,0.000064817,0.0000178374,0.0001770841],"genre_scores_gemma":[0.9985538,0.00009683862,0.0006659787,0.0001368042,0.000239985,0.0001194854,0.00006382779,0.00002237378,0.0001009101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2079079,"threshold_uncertainty_score":0.2486538,"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."}}