{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001735853,0.0001365525,0.0001339279,0.0001004736,0.0001109498,0.00004638283,0.0000533824,0.00008167938,0.0000113849],"category_scores_gemma":[0.00003371113,0.0001331247,0.00001598294,0.00008207078,0.0001086141,0.00001222381,0.00003497443,0.00009022459,0.000002250516],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001750033,"about_ca_system_score_gemma":0.00003659668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007585192,"about_ca_topic_score_gemma":0.001787438,"domain_scores_codex":[0.9990991,0.00007348906,0.0001837099,0.000327145,0.00009858915,0.0002179658],"domain_scores_gemma":[0.9997217,0.00001261644,0.00006658769,0.0001171363,0.00003062468,0.00005133514],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002207897,0.001137198,0.3754871,0.0005709988,0.0003129883,0.0003066081,0.008107725,0.001520584,0.5590799,0.02394404,0.0004913037,0.02683364],"study_design_scores_gemma":[0.00392609,0.001221452,0.9882453,0.0001163412,0.00004441763,0.000207983,0.0007140459,0.001087412,0.00126719,0.001963839,0.0007080172,0.0004979119],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954987,0.0002963513,0.0028562,0.0002027188,0.00001847677,0.0001806234,0.000002132331,0.000008943906,0.0009358232],"genre_scores_gemma":[0.9978365,0.0001117673,0.001669007,0.00007703522,0.00003918245,0.00003358713,0.0001101351,0.0000156717,0.0001071678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6127582,"threshold_uncertainty_score":0.5428669,"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."}}