{"id":"W2420303983","doi":"10.1002/humu.23016","title":"Recessive <i>PIGN</i> Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity","year":2016,"lang":"en","type":"letter","venue":"Human Mutation","topic":"Neonatal Health and Biochemistry","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Missense mutation; Biology; Genetics; Exome sequencing; Hypotonia; Exome; Joubert syndrome; Genetic heterogeneity; Mutation; Gene; Phenotype","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":[],"consensus_categories":[],"category_scores_codex":[0.0001569407,0.0002532947,0.0003724913,0.0001811839,0.0001260637,0.00002279298,0.0001296071,0.0005851291,0.000102444],"category_scores_gemma":[0.0001861201,0.0002196264,0.0001317923,0.0001312104,0.00009266154,0.00009080882,0.00002041069,0.0005428201,0.00006476774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003138979,"about_ca_system_score_gemma":0.0002993827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004608154,"about_ca_topic_score_gemma":0.00004435412,"domain_scores_codex":[0.9981367,0.00005977226,0.000522115,0.0005402551,0.0003238873,0.0004172981],"domain_scores_gemma":[0.9987625,0.0003109795,0.0002890513,0.0003373485,0.0001979369,0.0001021833],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005464706,0.0001992133,0.006304996,0.02500517,0.0002090053,0.008301847,0.0006384035,0.000009137556,0.02381098,0.00002316088,0.8894336,0.04551801],"study_design_scores_gemma":[0.02390319,0.006566132,0.2386514,0.04790598,0.002429786,0.009935563,0.0002815452,0.0002977554,0.09824446,0.02041669,0.5463351,0.005032418],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7168036,0.002570242,0.0009991771,0.27501,0.0004990866,0.003255492,0.0004048361,0.0001208187,0.000336734],"genre_scores_gemma":[0.6741854,0.0001575551,0.002232633,0.3085137,0.004205829,0.001420598,0.005226681,0.0001323938,0.003925199],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3430985,"threshold_uncertainty_score":0.8956106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0744788933245294,"score_gpt":0.3826507012795327,"score_spread":0.3081718079550033,"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."}}