{"id":"W3092854987","doi":"10.1101/gad.340190.120","title":"PRIM1 deficiency causes a distinctive primordial dwarfism syndrome","year":2020,"lang":"en","type":"article","venue":"Genes & Development","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Medical Research Council; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Wellcome Trust; Lister Institute of Preventive Medicine; European Commission; Scottish Government","keywords":"Biology; Replisome; DNA replication; Genetics; Gene; Pre-replication complex; DNA polymerase; Primase; Cell biology; Eukaryotic DNA replication; Polymerase chain reaction; Reverse transcriptase","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001373118,0.001273202,0.0004264389,0.001037382,0.0003907202,0.0003057398,0.0002809297,0.0005889054,0.001319141],"category_scores_gemma":[0.0005139011,0.0002839386,0.0002633751,0.0003697722,0.0006737646,0.0001426798,0.0008231797,0.000489993,0.000235795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002126715,"about_ca_system_score_gemma":0.0002612929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005607572,"about_ca_topic_score_gemma":0.0007583328,"domain_scores_codex":[0.9997322,0.00002663125,0.00002995357,0.0001008019,0.00008070221,0.00002977335],"domain_scores_gemma":[0.9996328,0.00008472639,0.0001116744,0.00002383133,0.00001539601,0.0001316083],"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":[0.0009654317,0.00008304454,0.03227106,0.0002350274,0.0001256896,0.1904855,0.0006306585,0.0006007923,0.7515798,0.001324157,0.0007488792,0.02094999],"study_design_scores_gemma":[0.00008774322,0.0007952687,0.1581398,0.00004671211,0.0002031436,0.6923608,0.000228054,0.001920139,0.1382425,0.001002856,0.006911086,0.0000618852],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947128,0.0006079257,0.002826568,0.0001217409,0.00003086375,0.00002305719,0.0004651237,0.0001827732,0.001029227],"genre_scores_gemma":[0.9973682,0.0002668673,0.00139094,0.00004037686,0.00001600164,0.000005584873,0.0001973578,0.00002621311,0.0006883722],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001319141,"threshold_uncertainty_score":0.004412949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01454258888600432,"score_gpt":0.2258912396070812,"score_spread":0.2113486507210769,"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."}}