{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005419607,0.0005129503,0.0005690024,0.0004432865,0.00008512988,0.00006971115,0.0005697859,0.0004042787,0.00003992459],"category_scores_gemma":[0.0003084188,0.0005472415,0.0000927997,0.0005558364,0.0002203844,0.0000136565,0.0001694255,0.0003298827,0.00002212339],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001179478,"about_ca_system_score_gemma":0.0003000571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001879055,"about_ca_topic_score_gemma":0.0006730812,"domain_scores_codex":[0.9965625,0.0003721534,0.0008164037,0.001094576,0.0003175725,0.0008367924],"domain_scores_gemma":[0.9982178,0.00005437495,0.0001600771,0.001128664,0.0001200771,0.0003189721],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001528412,0.0003142666,0.003378424,0.00005864435,0.00008162744,0.0003231739,0.0008915886,0.002506375,0.9895442,0.0001525223,0.000356769,0.00237716],"study_design_scores_gemma":[0.02716315,0.005678929,0.3853475,0.0005095353,0.0007276403,0.0007454333,0.009782719,0.02242988,0.4811438,0.004004153,0.06129409,0.001173203],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9733791,0.008132766,0.01607829,0.0002246329,0.000373393,0.0006308082,0.00002126704,0.00003417977,0.001125547],"genre_scores_gemma":[0.99279,0.0008198366,0.001654731,0.002837053,0.000145426,0.00005381964,0.001037222,0.0000911566,0.0005707208],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5084004,"threshold_uncertainty_score":0.9996979,"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."}}