{"id":"W4313656851","doi":"10.1007/s10633-022-09916-5","title":"Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy","year":2023,"lang":"en","type":"article","venue":"Documenta Ophthalmologica","topic":"Wnt/β-catenin signaling in development and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Alcon Research Institute; National Eye Institute; Research to Prevent Blindness; National Institute on Aging; NIH Clinical Center; National Cancer Institute; National Institutes of Health; Foundation Fighting Blindness; New York Stem Cell Foundation","keywords":"Penetrance; Genetics; Phenotype; Biology; Dystrophy; Medicine; Gene","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":[0.0004964666,0.001636079,0.0006556967,0.001762473,0.001009897,0.0005106326,0.0006611497,0.0009079839,0.003163435],"category_scores_gemma":[0.001839534,0.000373306,0.0005722148,0.0009427139,0.0008965757,0.0002645472,0.0006415839,0.0007497186,0.0004921877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002817414,"about_ca_system_score_gemma":0.0002869558,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001378258,"about_ca_topic_score_gemma":0.00136629,"domain_scores_codex":[0.9994113,0.0001193205,0.00007554606,0.0001847977,0.0001339506,0.00007514074],"domain_scores_gemma":[0.9988784,0.0005649949,0.0002097171,0.0001040995,0.00008015183,0.0001626984],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005471772,0.0002510018,0.06957206,0.00007855443,0.0001448977,0.7166461,0.00267989,0.0008265722,0.1980342,0.001105869,0.0004882766,0.009625434],"study_design_scores_gemma":[0.00004496303,0.0003081892,0.1563269,0.00002953648,0.0001425336,0.8259076,0.0005197941,0.001713427,0.01275594,0.0004424435,0.001746858,0.0000617792],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961278,0.0001427813,0.001242239,0.0001199807,0.00001332094,0.00001852458,0.0002597222,0.00005086363,0.002024913],"genre_scores_gemma":[0.9987327,0.00006919404,0.0005091411,0.00003885315,0.00002172545,0.00001126949,0.0001081309,0.00002549119,0.0004835279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003163435,"threshold_uncertainty_score":0.01058275,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01283534951452686,"score_gpt":0.2610368337181127,"score_spread":0.2482014842035858,"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."}}