{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008963488,0.0003138857,0.0001687863,0.0003401072,0.0002932998,0.0002237101,0.0001139655,0.0002211603,0.001341452],"category_scores_gemma":[0.0002578158,0.0001304411,0.0001364821,0.0001660055,0.0002669796,0.00009601951,0.0001657299,0.0001559696,0.0002383637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001867054,"about_ca_system_score_gemma":0.0001240289,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001842467,"about_ca_topic_score_gemma":0.002378254,"domain_scores_codex":[0.9999409,0.000008289313,0.000005998917,0.00001807966,0.000009436271,0.0000173643],"domain_scores_gemma":[0.9998995,0.00001708238,0.00002896672,0.000007635749,0.00001036944,0.00003648594],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001531386,0.0003684315,0.475692,0.00006778991,0.00008504601,0.09537356,0.0009342788,0.0003841149,0.4144416,0.0004795776,0.0003557731,0.01028636],"study_design_scores_gemma":[0.0001499764,0.001687655,0.7106295,0.00002374678,0.0001147409,0.2357224,0.0007714048,0.001357704,0.04545101,0.000272059,0.003797748,0.00002208644],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99951,0.00003008225,0.00007557183,0.00000782375,0.000001332904,0.000004233408,0.00001725815,0.000003263593,0.0003504383],"genre_scores_gemma":[0.9995209,0.00002303469,0.00009847531,0.00001000186,0.000002396653,0.00000334549,0.00004209313,0.000002388874,0.0002974046],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001842467,"threshold_uncertainty_score":0.004487634,"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."}}