{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002259631,0.002686672,0.0007473622,0.001753526,0.000786276,0.0006652336,0.000848474,0.001711018,0.004149608],"category_scores_gemma":[0.001101395,0.0004537085,0.0004690916,0.001343428,0.001005429,0.0004621568,0.001320087,0.0006774095,0.0005278048],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003187815,"about_ca_system_score_gemma":0.0006371001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001086217,"about_ca_topic_score_gemma":0.001505589,"domain_scores_codex":[0.9995489,0.00006344568,0.00006620817,0.0001050045,0.000129855,0.00008654062],"domain_scores_gemma":[0.9991641,0.0002524831,0.000249191,0.00004206214,0.00003696618,0.0002552778],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.001078086,0.0001273545,0.03373837,0.0002198588,0.0002571107,0.7072244,0.0004563038,0.0005214091,0.2379865,0.005183768,0.0008524024,0.01235439],"study_design_scores_gemma":[0.0003395836,0.0003080615,0.08346628,0.00009161194,0.0003523048,0.877111,0.0004483454,0.002302218,0.02642588,0.002954938,0.006103573,0.00009628292],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923974,0.0008797373,0.001421567,0.0002184633,0.0001267646,0.00003306813,0.0003166435,0.00007961719,0.0045268],"genre_scores_gemma":[0.996381,0.0002742993,0.001370635,0.00006011567,0.00007619086,0.00002054111,0.0001475218,0.00003662807,0.001633144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004149608,"threshold_uncertainty_score":0.01388186,"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."}}