{"id":"W4214577025","doi":"10.14740/jh943","title":"Compound Heterozygous Factor VII Deficiency c.1025G&gt;A p.(Arg342Gln) With Novel Missense Variant c.194C&gt;G p.(Ala65Gly)","year":2022,"lang":"en","type":"article","venue":"Journal of Hematology","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Missense mutation; Exon; Factor VII; Genotype; Gene; Compound heterozygosity; Medicine; Genetics; Loss of heterozygosity; Molecular biology; Phenotype; Biology; Allele; Coagulation; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004444572,0.0002848054,0.000963527,0.0005239448,0.000358148,0.00002831773,0.0002983252,0.0001191102,0.001336458],"category_scores_gemma":[0.0001139622,0.0001887177,0.0002594388,0.0004163192,0.0002093974,0.0001077183,0.000145022,0.0008911553,0.00003197651],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002677232,"about_ca_system_score_gemma":0.0006505953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001524369,"about_ca_topic_score_gemma":0.000006909109,"domain_scores_codex":[0.9971194,0.0001684897,0.0007777744,0.0003102516,0.0009842752,0.0006398078],"domain_scores_gemma":[0.9981446,0.000296433,0.0004567348,0.0003746041,0.0003349507,0.0003926851],"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":[0.0251073,0.02948651,0.1116807,0.002083537,0.005067064,0.4707402,0.00713259,0.0008064798,0.2933582,0.01470254,0.03375534,0.006079551],"study_design_scores_gemma":[0.01920862,0.0187367,0.009448324,0.0003012452,0.0005831553,0.8885809,0.001232957,0.000631881,0.007676675,0.0003573987,0.05260235,0.0006397675],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989436,0.002263502,0.0007052728,0.00519205,0.0004273149,0.0003929363,0.00003331226,0.00003010787,0.00151948],"genre_scores_gemma":[0.9956907,0.00007467887,0.002307195,0.0003010642,0.0001282218,0.00001277567,0.00001135742,0.00004577071,0.001428209],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4178408,"threshold_uncertainty_score":0.9995764,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03291371815585203,"score_gpt":0.3001589622648389,"score_spread":0.2672452441089869,"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."}}