{"id":"W4411226339","doi":"10.1155/humu/6490124","title":"Functional Characterization of Variants in <i>LARP7</i>: Report of Three New Individuals With Alazami Syndrome and a Literature Review","year":2025,"lang":"en","type":"review","venue":"Human Mutation","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services; Women and Children’s Health Research Institute; University of Alberta","funders":"University of Alberta; Women and Children's Health Research Institute; Children's Health Research Institute; Alberta Health Services","keywords":"Biology; Genetics; Computational biology; Evolutionary 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":[0.0005170204,0.0007653339,0.0008644414,0.005204784,0.0006482351,0.0008827792,0.0008778246,0.001184002,0.001356475],"category_scores_gemma":[0.001135548,0.0004017471,0.0007157548,0.002615165,0.0008065323,0.0007212613,0.0005934054,0.0005988012,0.0006784711],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004571006,"about_ca_system_score_gemma":0.0005142356,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001130298,"about_ca_topic_score_gemma":0.001233587,"domain_scores_codex":[0.9993942,0.00004602079,0.0002599732,0.0001464366,0.0000892469,0.00006411303],"domain_scores_gemma":[0.9988905,0.0004437114,0.0002929382,0.00006980963,0.0001695409,0.0001335284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"systematic_review","study_design_scores_codex":[0.000308018,0.0002560874,0.08841658,0.005759838,0.0007227508,0.6759648,0.002048966,0.0005164046,0.02670234,0.0006442179,0.01009484,0.1885651],"study_design_scores_gemma":[0.00004337329,0.0001940361,0.07131446,0.001255194,0.0009555181,0.880979,0.000853852,0.0004497268,0.005796754,0.0005843718,0.03747898,0.00009475991],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.6498464,0.3235234,0.008285528,0.004778059,0.001095547,0.0003643627,0.001687361,0.0003153804,0.01010401],"genre_scores_gemma":[0.8251671,0.1587179,0.005875228,0.003252193,0.00180766,0.0001663113,0.002916103,0.00008085764,0.002016669],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.005204784,"threshold_uncertainty_score":0.00453788,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01986045908724451,"score_gpt":0.2886294658838631,"score_spread":0.2687690067966186,"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."}}