{"id":"W3048527675","doi":"10.1139/gen-2020-0049","title":"Complex intragene deletion leads to oculocutaneous albinism in tanuki (Japanese raccoon dog)","year":2020,"lang":"en","type":"article","venue":"Genome","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Japan Society for the Promotion of Science","keywords":"Biology; Oculocutaneous albinism; Genetics; Albinism; Tyrosinase; Exon; Nonsynonymous substitution; Stop codon; Gene; Molecular biology; Mutation; Phenotype; Point mutation; Enzyme; Biochemistry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"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":[0.00009061884,0.0004569943,0.0001557654,0.0003300892,0.0001844111,0.0002001665,0.0002033888,0.0003663991,0.001052014],"category_scores_gemma":[0.0001611423,0.0001595685,0.0001859764,0.0001492418,0.0003252826,0.00008552671,0.0002365378,0.0004130034,0.0002725213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002319733,"about_ca_system_score_gemma":0.0001244613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001265758,"about_ca_topic_score_gemma":0.002053445,"domain_scores_codex":[0.9998749,0.00002167216,0.00001182922,0.00003650495,0.00003115468,0.00002397192],"domain_scores_gemma":[0.9998462,0.00003294659,0.000058355,0.00001085951,0.0000077179,0.00004383845],"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":[0.0001107412,0.00006202255,0.001392765,0.00001901108,0.00001529833,0.001091339,0.00005445366,0.00006345597,0.9961401,0.00008650569,0.00003439482,0.0009299183],"study_design_scores_gemma":[0.000301998,0.001737695,0.2232344,0.00004359512,0.0003090209,0.02299681,0.0005226898,0.006089452,0.7336951,0.0002758735,0.01073018,0.00006311602],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993623,0.00007017644,0.0002513623,0.00001273035,0.000005884055,0.000009405509,0.00005245977,0.00001195251,0.0002238897],"genre_scores_gemma":[0.997981,0.0001210102,0.0005045597,0.00003028307,0.000004850015,0.00001264567,0.0003319089,0.00002179255,0.0009919743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001265758,"threshold_uncertainty_score":0.003519356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01878617155897042,"score_gpt":0.260684559797524,"score_spread":0.2418983882385536,"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."}}