{"id":"W2809163343","doi":"10.1002/mgg3.388","title":"<i>ERCC6L2</i>‐associated inherited bone marrow failure syndrome","year":2018,"lang":"en","type":"review","venue":"Molecular Genetics & Genomic Medicine","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"C17 Council","keywords":"Medicine; Exome sequencing; Microcephaly; Pathology; Bone marrow; Bone marrow failure; Craniofacial; Dysmetria; Sensorineural hearing loss; Hearing loss; Ataxia; Phenotype; Pediatrics; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001642843,0.0007491002,0.0003181757,0.00088326,0.0005094475,0.0003785433,0.0003659876,0.0004515843,0.002250241],"category_scores_gemma":[0.0003634885,0.00008478905,0.0002093924,0.0008696363,0.0006441794,0.000163508,0.0003422346,0.0003609605,0.0003478674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006263718,"about_ca_system_score_gemma":0.0005104104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00567274,"about_ca_topic_score_gemma":0.008605937,"domain_scores_codex":[0.9998172,0.00001293086,0.00002445199,0.00004557024,0.00005037955,0.00004943311],"domain_scores_gemma":[0.9997543,0.00004888838,0.00009422727,0.00001344727,0.00003342624,0.00005580353],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005158999,0.0001014339,0.2247281,0.000708814,0.0002078762,0.5802569,0.0008237063,0.00113447,0.1453814,0.001877931,0.007049337,0.03721423],"study_design_scores_gemma":[0.00006370975,0.0001648649,0.1952062,0.00009914052,0.0001521427,0.769729,0.0002506243,0.0005649221,0.02216144,0.0003728928,0.01120919,0.00002579262],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9795726,0.005725225,0.002653071,0.000476894,0.00004647729,0.00008363957,0.001340643,0.0001535475,0.009948039],"genre_scores_gemma":[0.9971845,0.0007475267,0.0006713121,0.0001732932,0.00003900359,0.000008744432,0.0004918453,0.00001357923,0.0006701741],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.00567274,"threshold_uncertainty_score":0.01127946,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03620704011889411,"score_gpt":0.327428310069406,"score_spread":0.2912212699505119,"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."}}