{"id":"W1991531268","doi":"10.1371/journal.pone.0046408","title":"Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide","year":2012,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Centre National de la Recherche Scientifique; European Commission; Association Française contre les Myopathies","keywords":"Biology; Genetics; Gene; Mutation; Genotyping; Haplotype; Genetic heterogeneity; Allele; Genotype; Phenotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002645371,0.0004217021,0.0002331267,0.0006049261,0.0003200443,0.0003608724,0.0002726338,0.0007820201,0.001198772],"category_scores_gemma":[0.000301145,0.0001102255,0.000289406,0.0003167698,0.0003821363,0.0002365601,0.0002266015,0.0002471751,0.0003259034],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004076658,"about_ca_system_score_gemma":0.0001412526,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004194431,"about_ca_topic_score_gemma":0.00501467,"domain_scores_codex":[0.999803,0.00002403383,0.00001820797,0.00007637624,0.00004607717,0.00003222643],"domain_scores_gemma":[0.9999039,0.000007927647,0.00004125748,0.00000905661,0.00001292824,0.00002499635],"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":[0.001030828,0.00033059,0.4015083,0.0003081958,0.0003995358,0.04869554,0.001416289,0.0003224091,0.5082524,0.0004875173,0.00112338,0.0361251],"study_design_scores_gemma":[0.00004532441,0.000883974,0.9139575,0.00004614467,0.0002091193,0.06885617,0.000407343,0.0005008405,0.01094724,0.0001119601,0.004009193,0.0000250706],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979063,0.0008684652,0.0002287803,0.00007636822,0.000007098244,0.000009480646,0.0001124766,0.00001606362,0.000774901],"genre_scores_gemma":[0.9976265,0.0006379342,0.0002283509,0.00007495863,0.00002421787,0.000005848113,0.0002876134,0.00000802793,0.001106456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004194431,"threshold_uncertainty_score":0.008340061,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03237939612444937,"score_gpt":0.2360303560041978,"score_spread":0.2036509598797484,"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."}}