{"id":"W2924677397","doi":"","title":"Molecular Characterization of Missense Mutations in Nucleotide Binding Domains of ABCA4 Associated with Stargardt Disease","year":2018,"lang":"en","type":"article","venue":"","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"Missense mutation; ABCA4; Genetics; Stargardt disease; Biology; Nucleotide; Mutation; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001669279,0.0005213487,0.0004935424,0.001011825,0.0003207144,0.0003586434,0.0003665497,0.001020499,0.001459874],"category_scores_gemma":[0.000811999,0.000207476,0.0005378798,0.0004535708,0.0005804556,0.0001938725,0.0002823356,0.0004134958,0.0003829499],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002752607,"about_ca_system_score_gemma":0.0001882492,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001098027,"about_ca_topic_score_gemma":0.0007656472,"domain_scores_codex":[0.9997775,0.00003181268,0.00004923599,0.00004815074,0.00005816963,0.00003515611],"domain_scores_gemma":[0.9995453,0.0001717595,0.000122912,0.00002977164,0.00004472008,0.00008545518],"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":[0.0009229053,0.0001767917,0.02757591,0.0001285754,0.0001701608,0.1254767,0.0003759435,0.0007554017,0.8366801,0.0006974218,0.0002814342,0.006758619],"study_design_scores_gemma":[0.0002666614,0.001048818,0.2858269,0.00005341086,0.0006356382,0.2868979,0.0006881489,0.01011075,0.4067813,0.001219768,0.006350039,0.0001206692],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984825,0.0002662977,0.0005966184,0.0000835208,0.00003609272,0.0000123055,0.0001359823,0.00001870205,0.0003680853],"genre_scores_gemma":[0.99888,0.00008628687,0.0005299322,0.00004235162,0.00001328052,0.000004790171,0.0001460633,0.000008772024,0.0002885493],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001459874,"threshold_uncertainty_score":0.004883766,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004978615241966774,"score_gpt":0.2187902284472324,"score_spread":0.2138116132052656,"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."}}