{"id":"W2110485432","doi":"10.1093/hmg/ddi023","title":"Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration","year":2004,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Center for Research Resources; National Eye Institute","keywords":"Biology; Carbonic anhydrase; Retinal degeneration; Mutant; Retinal; Retina; Degeneration (medical); Cell biology; Biochemistry; Carbonic anhydrase II; Enzyme; Gene; Neuroscience","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":[0.0002195128,0.001085951,0.0005131887,0.0008489431,0.0003177656,0.0003755105,0.0004922886,0.0009917284,0.002242216],"category_scores_gemma":[0.0004136454,0.0004166688,0.0004151452,0.0003417158,0.0007973957,0.000220459,0.000439604,0.0006457046,0.0005873912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000638104,"about_ca_system_score_gemma":0.0004137265,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002610913,"about_ca_topic_score_gemma":0.002138207,"domain_scores_codex":[0.9995666,0.00008487426,0.00006272965,0.00008071493,0.0001309318,0.000074105],"domain_scores_gemma":[0.9995238,0.0001046028,0.0001625737,0.00004628902,0.00002560363,0.0001372556],"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":[0.0003541297,0.0000990996,0.0004405265,0.00003839657,0.00003836465,0.0008641413,0.00002913237,0.0002396317,0.9962108,0.0002470265,0.0001591183,0.001279538],"study_design_scores_gemma":[0.000197691,0.001008594,0.01563117,0.00002884071,0.0001624688,0.006630863,0.0001104898,0.004273369,0.9670999,0.0006163106,0.004203308,0.00003702853],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946924,0.0009567252,0.001714212,0.0001614001,0.00006379814,0.00002895327,0.0005295928,0.0003047359,0.001548151],"genre_scores_gemma":[0.9949073,0.00058539,0.001234427,0.00007101498,0.0000140693,0.00002272144,0.0003999592,0.00009064988,0.002674427],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002610913,"threshold_uncertainty_score":0.007500947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007373646681315872,"score_gpt":0.2339371573725941,"score_spread":0.2265635106912782,"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."}}