{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001019038,0.0002117409,0.0001685827,0.00002428384,0.0001152539,0.00002473133,0.000250084,0.0001069104,0.0000470366],"category_scores_gemma":[0.0000593222,0.0002046576,0.00006791888,0.0001171516,0.00003981575,0.00000367772,0.0003324801,0.0000618649,0.0001294052],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003779213,"about_ca_system_score_gemma":0.0003306227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004610679,"about_ca_topic_score_gemma":0.00001031549,"domain_scores_codex":[0.9986396,0.0000358477,0.0002415824,0.0005270488,0.0002233772,0.0003324946],"domain_scores_gemma":[0.99946,0.000005633909,0.00007381861,0.0002210991,0.00006553386,0.0001739383],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00009534373,0.0001220116,0.003590648,0.00006557091,0.0001322367,0.00006816022,0.001166358,0.00004253571,0.9687493,0.0002152328,0.001187373,0.02456519],"study_design_scores_gemma":[0.0004762722,0.0003320342,0.02047158,0.00001240897,0.00002470695,0.00008259222,0.0001682557,0.00002013593,0.832866,0.00005396693,0.145,0.0004920351],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901953,0.000834526,0.007411802,0.0002352992,0.0002891014,0.0002970776,0.00001033549,0.00006281075,0.0006637465],"genre_scores_gemma":[0.9843897,0.00005870621,0.01409409,0.0007974458,0.0001579736,0.00008283874,0.00010244,0.00003367788,0.0002831055],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1438127,"threshold_uncertainty_score":0.8345696,"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."}}