{"id":"W4403833440","doi":"10.1681/asn.20245365fgfx","title":"Case Report of a Novel NRIP1 Gene Mutation: Disease Association or Mere Coincidence?","year":2024,"lang":"en","type":"article","venue":"Journal of the American Society of Nephrology","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Mutation; Association (psychology); Genetics; Gene; Medicine; Disease; Coincidence; Biology; Bioinformatics; Pathology; Psychology","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":[0.00069373,0.002973286,0.00211465,0.00432172,0.003432855,0.002916678,0.002489106,0.01062206,0.005710589],"category_scores_gemma":[0.005379628,0.00174888,0.001860477,0.003008481,0.002717909,0.003429395,0.002917041,0.005349341,0.002014485],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00147325,"about_ca_system_score_gemma":0.00109692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002527317,"about_ca_topic_score_gemma":0.002001695,"domain_scores_codex":[0.9982013,0.0002019056,0.0001977767,0.0006949814,0.0001736544,0.0005304898],"domain_scores_gemma":[0.9964995,0.001122405,0.0007375805,0.0003648145,0.0002802213,0.000995446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000281224,0.00002077577,0.002856937,0.00001955541,0.00000775934,0.9957289,0.00007847763,0.00002977042,0.0002419811,0.0001307379,0.0002837614,0.0005732849],"study_design_scores_gemma":[0.00000748006,0.00001637395,0.0008004418,0.000009919909,0.000007286,0.9985645,0.00005034618,0.00007627958,0.00007350442,0.0001246862,0.0002630598,0.000006042565],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9293061,0.02071319,0.008817438,0.01507547,0.002102285,0.0004135343,0.00106566,0.0005626236,0.02194355],"genre_scores_gemma":[0.9892166,0.002573834,0.002352449,0.001558467,0.002168966,0.00006014177,0.000262461,0.00006600117,0.001740988],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01062206,"threshold_uncertainty_score":0.01910388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02088958863472493,"score_gpt":0.3018690382211585,"score_spread":0.2809794495864335,"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."}}