{"id":"W2624469680","doi":"10.1016/j.ymgmr.2017.06.002","title":"A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia","year":2017,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; National Institute of Mental Health; National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Intellectual and Developmental Disabilities Research Center; National Institutes of Health","keywords":"Mutation; Genetics; Biology; Medicine; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0001491006,0.0006591788,0.000507577,0.0009561718,0.000508557,0.0002875022,0.0003097644,0.0009008212,0.001654209],"category_scores_gemma":[0.0006082449,0.000301403,0.0003583203,0.0003179413,0.0004989345,0.0002641731,0.0004264706,0.0005006281,0.0002997812],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002752371,"about_ca_system_score_gemma":0.0002363746,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009091803,"about_ca_topic_score_gemma":0.001017415,"domain_scores_codex":[0.9998167,0.0000196255,0.0000167857,0.00006493236,0.00004515233,0.00003680063],"domain_scores_gemma":[0.9996963,0.00006398952,0.00007584802,0.00001830655,0.00001743625,0.0001282359],"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":[0.0001145382,0.00006904169,0.0198703,0.00004040958,0.00002400196,0.9415513,0.0004044696,0.0001744501,0.03220619,0.000501774,0.000360335,0.004683154],"study_design_scores_gemma":[0.00001324017,0.0002161334,0.02985105,0.000006320407,0.00002169691,0.9633251,0.00007044462,0.0003368551,0.005287034,0.0001005896,0.0007579952,0.00001355066],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967322,0.0005392664,0.0008700901,0.0003043555,0.00003703441,0.000020662,0.0001127974,0.00006174148,0.001321771],"genre_scores_gemma":[0.9980849,0.0002161796,0.0006233587,0.00007180226,0.0000469716,0.00000443631,0.00003905135,0.00001086533,0.0009024871],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001654209,"threshold_uncertainty_score":0.005533874,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004166627669309489,"score_gpt":0.2172969321556033,"score_spread":0.2131303044862938,"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."}}