{"id":"W2004087549","doi":"10.1006/mgme.2000.3001","title":"Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease","year":2000,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":162,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital","funders":"National Eye Institute","keywords":"Genetics; Retinitis pigmentosa; Biology; Retinal degeneration; Genetic heterogeneity; Proband; Dystrophy; GUCY2D; Retinal; Compound heterozygosity; 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":[0.0008189171,0.0004335218,0.0004876007,0.004532679,0.000508359,0.0008863524,0.0005718501,0.001374943,0.006333292],"category_scores_gemma":[0.004876197,0.0004811144,0.0002856459,0.001200667,0.0007444372,0.0006638953,0.0006525646,0.0005760295,0.0007212668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001679699,"about_ca_system_score_gemma":0.0001506757,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001051179,"about_ca_topic_score_gemma":0.0006481549,"domain_scores_codex":[0.9988978,0.0002507106,0.0001905465,0.0002634266,0.0002248787,0.0001726164],"domain_scores_gemma":[0.9960557,0.001707067,0.001162704,0.0002526695,0.0003640773,0.0004578086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001000258,0.0001250898,0.949289,0.00006710608,0.0001577802,0.004936013,0.0003609586,0.0001227597,0.03618069,0.00018944,0.0002873154,0.007283485],"study_design_scores_gemma":[0.00001802374,0.0001759305,0.9748516,0.0000163308,0.0001320255,0.02153569,0.0002215232,0.000339834,0.002300755,0.0001013712,0.0002920177,0.00001488484],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981881,0.0004610673,0.0001569716,0.00004474385,0.000007655879,0.00000358205,0.0002194017,0.00001621847,0.0009023803],"genre_scores_gemma":[0.9994754,0.0001108834,0.00009884359,0.00001930798,0.00001556316,0.000003518763,0.0001079616,0.000006432228,0.0001620138],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006333292,"threshold_uncertainty_score":0.02118695,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005580241600149908,"score_gpt":0.2318250378038454,"score_spread":0.2262447962036955,"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."}}