{"id":"W2156382171","doi":"10.1002/humu.22717","title":"Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant","year":2014,"lang":"en","type":"article","venue":"Human Mutation","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Foundation Fighting Blindness; Macula Vision Research Foundation","keywords":"ABCA4; Biology; Genetics; Retinal; Compound heterozygosity; Allele; Computational biology; Gene; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002512948,0.001302289,0.0003907238,0.001157631,0.0007985698,0.0004079377,0.0002660562,0.000908519,0.001097845],"category_scores_gemma":[0.001306649,0.0005027403,0.0003324093,0.0004865995,0.0006194498,0.0002483705,0.000500824,0.0005458377,0.0002154914],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002290961,"about_ca_system_score_gemma":0.0002012324,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00187165,"about_ca_topic_score_gemma":0.002305844,"domain_scores_codex":[0.9996333,0.00005921676,0.00004768216,0.0001184174,0.00007526007,0.00006601711],"domain_scores_gemma":[0.9996541,0.0001072836,0.0001349961,0.00001655418,0.00002043361,0.00006672702],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001699922,0.0005958645,0.8055136,0.0000725163,0.0001782546,0.101335,0.002273526,0.0006906918,0.06981005,0.0006264586,0.0005223191,0.01668191],"study_design_scores_gemma":[0.0001829058,0.001750228,0.7155815,0.00005747807,0.0003830529,0.2581436,0.001108732,0.001813977,0.01894871,0.0007838572,0.001161613,0.00008438945],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994627,0.00005586393,0.0002057159,0.00002629452,0.000003128327,0.000004689703,0.00003116637,0.000009112345,0.0002014654],"genre_scores_gemma":[0.9994326,0.00003372552,0.0002983871,0.00002751746,0.000008796821,0.000003918018,0.00004320324,0.000004390408,0.0001473731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00187165,"threshold_uncertainty_score":0.003721476,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006137826176005898,"score_gpt":0.212359637972732,"score_spread":0.2062218117967261,"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."}}