{"id":"W1986303572","doi":"10.1038/gim.2013.13","title":"A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies","year":2013,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Missense mutation; Phenocopy; Genetics; Biology; Allele; Chondrodysplasia punctata; Genotype; Mutation; Phenotype; Gene","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":[0.0007946698,0.001380321,0.0007274807,0.001534424,0.002862097,0.0009623386,0.000757058,0.001608568,0.003528151],"category_scores_gemma":[0.002241232,0.001414117,0.0006481048,0.001461958,0.001062645,0.0008962627,0.0009932517,0.001245206,0.001059336],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000372799,"about_ca_system_score_gemma":0.0007395328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005685851,"about_ca_topic_score_gemma":0.004156577,"domain_scores_codex":[0.9989455,0.0002833152,0.00008757675,0.0003675405,0.000125935,0.0001901314],"domain_scores_gemma":[0.9981249,0.0003381454,0.0002518117,0.0002223636,0.0002116564,0.0008511394],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008721178,0.0002688012,0.9889447,0.000007667093,0.00006524853,0.005399307,0.0002679854,0.00006314263,0.002902851,0.00007104457,0.00008510223,0.001052016],"study_design_scores_gemma":[0.00009101757,0.001551481,0.9836525,0.000009216087,0.0000955389,0.0124383,0.0006029351,0.0002396373,0.0005539375,0.0001138198,0.0006203513,0.00003130765],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986834,0.000167125,0.0002088306,0.00004365392,0.000008388509,0.00002063221,0.0002497919,0.000007508404,0.0006107035],"genre_scores_gemma":[0.9986168,0.0001048303,0.0001421233,0.00005456527,0.00001376578,0.00002295975,0.0003470398,0.000009519352,0.0006882715],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005685851,"threshold_uncertainty_score":0.01180285,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01206949922097449,"score_gpt":0.2673022136341611,"score_spread":0.2552327144131866,"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."}}