{"id":"W2277822746","doi":"10.1093/hmg/ddw020","title":"A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Wnt/β-catenin signaling in development and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Eye Institute; Sun Yat-sen University; Medical Research Council; National Institutes of Health; Alberta Innovates; Women and Children's Health Research Institute; Natural Sciences and Engineering Research Council of Canada; Children's Health Research Institute; National Institute for Health and Care Research; University of Edinburgh; Canadian Institutes of Health Research; Wellcome Trust","keywords":"Frameshift mutation; Biology; Coloboma; Genetics; Mutation; Molecular biology; Cell biology; Gene","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":[0.00008910005,0.0009573118,0.0002236248,0.000459625,0.0002950629,0.0001472439,0.0002460402,0.0006052572,0.001449984],"category_scores_gemma":[0.0002009177,0.0001808814,0.0003682897,0.0002222686,0.0003937761,0.00008816283,0.000371129,0.0003786531,0.0003248051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004669063,"about_ca_system_score_gemma":0.0002474975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001815623,"about_ca_topic_score_gemma":0.002019134,"domain_scores_codex":[0.9998477,0.00001629357,0.0000191069,0.00004290385,0.00004819984,0.00002591714],"domain_scores_gemma":[0.9998468,0.00003431726,0.00005280743,0.000006055173,0.00000714476,0.00005286583],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002724122,0.00008104671,0.002837884,0.00009561538,0.00005198964,0.03919253,0.00009880833,0.000225337,0.9534496,0.0004456577,0.0002956784,0.00295349],"study_design_scores_gemma":[0.0003753377,0.001437156,0.1135272,0.00007105334,0.0003443271,0.2394553,0.0002667765,0.006478569,0.6221794,0.000447011,0.01534609,0.00007178676],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954277,0.0005587143,0.002252246,0.0001064767,0.00004586429,0.00004637139,0.0004300374,0.0001422781,0.0009902946],"genre_scores_gemma":[0.9971823,0.0002496608,0.001075065,0.00005175701,0.00001719902,0.00001606728,0.0003038568,0.00002148205,0.001082672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001815623,"threshold_uncertainty_score":0.004850626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008963672905549036,"score_gpt":0.2475309632220776,"score_spread":0.2385672903165286,"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."}}