{"id":"W2057414898","doi":"10.1002/ajmg.a.32743","title":"Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Coloboma; Craniofacial; Eyelid; Medicine; Anatomy; Candidate gene; Craniofacial abnormality; Etiology; Dermatology; Biology; Genetics; Pathology; Ophthalmology; Gene","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":[0.0004635217,0.002275374,0.001041285,0.002355735,0.001840823,0.001579083,0.001122451,0.00329485,0.0021705],"category_scores_gemma":[0.004093546,0.001277035,0.001095531,0.001294919,0.001966556,0.0009957573,0.002022899,0.001592448,0.0006746103],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007279963,"about_ca_system_score_gemma":0.0005209605,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002367453,"about_ca_topic_score_gemma":0.002269653,"domain_scores_codex":[0.9991289,0.00007387741,0.0001139525,0.0002825003,0.0001570894,0.0002436782],"domain_scores_gemma":[0.9969288,0.0009974263,0.0007876534,0.0002452609,0.0002144224,0.0008265502],"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":[0.00006582504,0.00009119877,0.03809522,0.00004852435,0.00004539708,0.9517567,0.0009738497,0.00008326986,0.003201975,0.0003202676,0.0006659594,0.004651777],"study_design_scores_gemma":[0.00001704983,0.00005022903,0.01100921,0.000008733317,0.0000213542,0.9875119,0.0001099987,0.00008313858,0.0003298814,0.0001021788,0.0007416827,0.0000146756],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989594,0.002756423,0.001769447,0.0009963067,0.000253803,0.00007415844,0.0001906183,0.0001484313,0.004216897],"genre_scores_gemma":[0.9967201,0.0005712404,0.0008787994,0.0004141917,0.0002880679,0.00003989049,0.0001223774,0.00002811871,0.0009372042],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00329485,"threshold_uncertainty_score":0.007261038,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01001728394810018,"score_gpt":0.3052231228048823,"score_spread":0.2952058388567821,"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."}}