{"id":"W2055808786","doi":"10.1002/mgg3.72","title":"A‐<scp>T<sub>W</sub></scp><sub>innipeg</sub>: Pathogenesis of rare <i><scp>ATM</scp></i> missense mutation c.6200C&gt;A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening radiotoxicity","year":2014,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Shared Health","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health","keywords":"Missense mutation; Mutation; Ataxia-telangiectasia; Biology; Population; Molecular biology; Lymphoblast; Genetics; Gene; Cell culture; Medicine; DNA damage; DNA","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007643241,0.0007843824,0.0009675209,0.0002427936,0.0002066001,0.00005199319,0.0003285238,0.000501277,0.000001644323],"category_scores_gemma":[0.0006540316,0.0007051625,0.0001511455,0.00027706,0.0004885459,0.00001355529,0.0002366456,0.0002534181,0.000002491022],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005536262,"about_ca_system_score_gemma":0.0003046793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007932967,"about_ca_topic_score_gemma":0.00002689287,"domain_scores_codex":[0.9959652,0.0004460073,0.0008822981,0.001299896,0.0006444998,0.0007620489],"domain_scores_gemma":[0.997101,0.0001408057,0.0007389231,0.0009145031,0.0003555732,0.0007491757],"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":[0.0001477257,0.00009245554,0.001949302,0.000233469,0.0002496196,0.0001294295,0.0006537302,0.0006675432,0.9913201,0.000006988598,0.0001214289,0.004428172],"study_design_scores_gemma":[0.004256994,0.00165138,0.003310522,0.0005093876,0.0004649897,0.0002406271,0.0002708602,0.0008223382,0.9876683,0.00008497756,0.0004358144,0.0002837644],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9644564,0.01629457,0.01740259,0.00005862689,0.0001041007,0.001488128,0.00009282058,0.00005648595,0.00004622794],"genre_scores_gemma":[0.9914688,0.001739376,0.005387786,0.0004148216,0.0002481657,0.0002306909,0.0002943051,0.0001815604,0.00003443538],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02701241,"threshold_uncertainty_score":0.99954,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005018804967228842,"score_gpt":0.2011999283706861,"score_spread":0.1961811234034572,"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."}}