{"id":"W1982652247","doi":"10.1016/j.ajhg.2014.03.015","title":"Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":218,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; Wellcome Trust","keywords":"Sanger sequencing; Arthrogryposis; Exome sequencing; Genetics; Biology; 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":[],"consensus_categories":[],"category_scores_codex":[0.0002356658,0.0001202693,0.0003953315,0.0001519623,0.00008895163,0.00001494929,0.00009227494,0.00002928867,0.00009112548],"category_scores_gemma":[0.00004768744,0.00008399996,0.0000669046,0.0002435701,0.0004571907,0.00002533251,0.00003451145,0.0002829139,0.00001746001],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000310776,"about_ca_system_score_gemma":0.00004553498,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001682334,"about_ca_topic_score_gemma":0.00003304245,"domain_scores_codex":[0.9990161,0.0001618546,0.0003639688,0.0001143999,0.0001701806,0.0001734619],"domain_scores_gemma":[0.9991301,0.000109489,0.0003126167,0.0002124344,0.0001141986,0.0001211566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003639329,0.002220279,0.6717614,0.0003559283,0.002145863,0.004033688,0.01048394,0.002230763,0.1407407,0.001311413,0.006282846,0.1547939],"study_design_scores_gemma":[0.001278881,0.009689746,0.9747013,0.0001040191,0.000274132,0.009424029,0.001007234,0.0001941039,0.0001587961,0.0006045655,0.002396974,0.0001661575],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984533,0.0003848909,0.0001391347,0.0004880947,0.000150771,0.00009501683,0.000002088667,0.00000766016,0.0002790257],"genre_scores_gemma":[0.9980921,0.0004184935,0.0005965106,0.0005512692,0.00009519015,0.000001507593,0.000004915085,0.00002025271,0.0002197534],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.30294,"threshold_uncertainty_score":0.3425419,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0163554905057958,"score_gpt":0.2774468464005279,"score_spread":0.261091355894732,"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."}}