{"id":"W2135225949","doi":"10.1002/humu.22278","title":"Novel Germline<i>GJA5</i>/Connexin40 Mutations Associated with Lone Atrial Fibrillation Impair Gap Junctional Intercellular Communication","year":2013,"lang":"en","type":"article","venue":"Human Mutation","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research","keywords":"Gap junction; Missense mutation; Biology; Proband; Germline; Genetics; Germline mutation; Mutant; Mutation; Gene; Intracellular","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0002168339,0.0001824957,0.0001570387,0.00009493033,0.0002893611,0.00006560942,0.0001284255,0.0002015332,0.0002832224],"category_scores_gemma":[0.0001329024,0.0001715598,0.0001181563,0.0001299313,0.0001424339,0.00002712901,0.00005495559,0.0001209722,0.00005377989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005220652,"about_ca_system_score_gemma":0.00006377984,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001856728,"about_ca_topic_score_gemma":0.000468568,"domain_scores_codex":[0.9988503,0.0001349596,0.0003409258,0.0003261588,0.0001406235,0.0002070514],"domain_scores_gemma":[0.9989151,0.00005742894,0.0002528875,0.0003248783,0.0003858312,0.00006384135],"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":[0.0002326394,0.000152213,0.008304439,0.00002054529,0.0004287438,0.00000238019,0.0005868272,0.006017861,0.9737126,0.002505715,0.001857931,0.006178115],"study_design_scores_gemma":[0.02047109,0.005979902,0.8526457,0.0002886438,0.0006914887,0.000341523,0.002224926,0.03317457,0.05105036,0.009394123,0.02069543,0.003042237],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875837,0.0002063099,0.0105867,0.0003244546,0.00009829596,0.000450444,0.0000282105,0.00005070343,0.0006712027],"genre_scores_gemma":[0.9904224,0.00001459486,0.0008591919,0.0001319922,0.0004025698,0.00003497403,0.00741403,0.00002942016,0.0006908156],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9226622,"threshold_uncertainty_score":0.6996008,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02216341812699555,"score_gpt":0.2594292500145183,"score_spread":0.2372658318875227,"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."}}