{"id":"W2660605133","doi":"10.1038/ejhg.2017.99","title":"Yunis-Varón syndrome caused by biallelic VAC14 mutations","year":2017,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Calcium signaling and nucleotide metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"Biology; Phenotype; Exome sequencing; Compound heterozygosity; Activator (genetics); Cell biology; Missense mutation; Gene; Phosphatase; Genetics; Molecular biology","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":[0.0006045148,0.0001636714,0.0002061919,0.00006558873,0.0004679468,0.0001704201,0.0007095961,0.00004335179,0.00005232525],"category_scores_gemma":[0.0001099108,0.0001557866,0.0001755231,0.00002514643,0.0001616006,0.000006509941,0.0001497353,0.0001460018,0.00003547665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007403351,"about_ca_system_score_gemma":0.00004297144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003070317,"about_ca_topic_score_gemma":0.000004614301,"domain_scores_codex":[0.9987153,0.0002305494,0.0004531967,0.0001842948,0.0002049006,0.0002117972],"domain_scores_gemma":[0.9984774,0.000007658462,0.0005689141,0.000580979,0.0001926546,0.0001724059],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001744518,0.00007884085,0.0008552246,0.000008079435,0.0001197288,0.0002139584,0.0001111933,0.0001246283,0.9819574,0.0000279622,0.01471662,0.001768941],"study_design_scores_gemma":[0.007151772,0.004573916,0.2025183,0.0001692982,0.0005440395,0.001524638,0.0002463985,0.00006485445,0.3561933,0.0004277074,0.4252474,0.00133838],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934265,0.00203447,0.001024374,0.0001637138,0.000405122,0.00005508411,0.00001860517,0.000006525454,0.002865583],"genre_scores_gemma":[0.9967102,0.0002969255,0.0005603078,0.0001391645,0.0006097554,3.892772e-7,0.00002593592,0.00005785461,0.001599468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6257641,"threshold_uncertainty_score":0.6352794,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02241149301844004,"score_gpt":0.2755866874605559,"score_spread":0.2531751944421158,"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."}}