{"id":"W2759972729","doi":"10.17615/x8dg-7b55","title":"Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5","year":2014,"lang":"en","type":"article","venue":"Carolina Digital Repository (University of North Carolina at Chapel Hill)","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institutes of Health","keywords":"Arthrogryposis; Sanger sequencing; Exome sequencing; Genetics; Biology; Medicine; Phenotype; Mutation","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":[0.00008598584,0.0002951742,0.0006612608,0.0002684259,0.0002588389,0.00001567645,0.0001385804,0.0002160036,0.00003668707],"category_scores_gemma":[0.00008251152,0.0003393973,0.0002108807,0.0004357582,0.0005121779,0.000334793,0.000207035,0.0002954647,0.00006480095],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002131019,"about_ca_system_score_gemma":0.0001002753,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001362736,"about_ca_topic_score_gemma":0.0004884008,"domain_scores_codex":[0.9983066,0.0000886251,0.0003412882,0.0005909227,0.0003049177,0.0003676288],"domain_scores_gemma":[0.9985682,0.0001497571,0.0002210389,0.0004579112,0.0002422247,0.0003608629],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007085683,0.0002769922,0.9912934,0.0002745849,0.0001701276,0.002369589,0.000598932,0.00008959742,0.000882671,0.00007030208,0.0002185826,0.003046638],"study_design_scores_gemma":[0.001821745,0.001209204,0.9870965,0.0001072398,0.0002091514,0.004734388,0.0002385936,0.0007240981,0.00004373465,0.00003643712,0.00346063,0.0003182578],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934173,0.0002413272,0.00005274297,0.000114617,0.0004023302,0.0003581189,0.00006135277,0.00008734097,0.005264929],"genre_scores_gemma":[0.9953662,0.0001478888,0.00008746592,0.00007471885,0.00005693594,0.000001432554,0.0002254244,0.00003374316,0.004006177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004196893,"threshold_uncertainty_score":0.9999058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008612621137882403,"score_gpt":0.1912282124784561,"score_spread":0.1826155913405737,"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."}}