{"id":"W4416118372","doi":"10.1002/mgg3.70154","title":"An Intronic Variant in <scp> <i>CDKN1C</i> </scp> Gene Causing <scp>IMAGe</scp> Syndrome in an Iranian Girl","year":2025,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"Guilan University of Medical Sciences","keywords":"Girl; Gene; Intron; Genetic diagnosis; Genetic testing; RNA","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":[0.00009547753,0.0008617506,0.0003685933,0.0007211795,0.0006267268,0.0003491013,0.000460418,0.001178098,0.001985538],"category_scores_gemma":[0.0005506964,0.0001971886,0.000441611,0.0005081427,0.0006641998,0.0002627642,0.0003080055,0.0007969497,0.0004212513],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004020252,"about_ca_system_score_gemma":0.0004025997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003331442,"about_ca_topic_score_gemma":0.002607727,"domain_scores_codex":[0.9998208,0.00001258056,0.0000152273,0.00007621366,0.0000411205,0.00003410141],"domain_scores_gemma":[0.9996991,0.00009166004,0.00009752268,0.00001259059,0.00002292518,0.00007625934],"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":[0.0001083448,0.00005026478,0.02348109,0.00004272019,0.0000197576,0.9482647,0.0003430108,0.0002489535,0.02244057,0.0003429554,0.0006380499,0.00401961],"study_design_scores_gemma":[0.00004029214,0.0001594844,0.04878307,0.00003343514,0.00004819207,0.939951,0.0002213694,0.0006814013,0.007169615,0.0002049223,0.002689025,0.00001821851],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950362,0.0005925066,0.001081802,0.0006218675,0.00006948259,0.00004269055,0.0004247246,0.00006734124,0.002063322],"genre_scores_gemma":[0.9975092,0.000233426,0.0009585553,0.000224939,0.00005231717,0.0000109358,0.0002205618,0.00002328807,0.0007667319],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003331442,"threshold_uncertainty_score":0.006642342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007800878656743035,"score_gpt":0.2645343460457104,"score_spread":0.2567334673889673,"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."}}