{"id":"W2794420662","doi":"10.1002/humu.23407","title":"A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":168,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Izaak Walton Killam Health Centre; Dalhousie University","funders":"H2020 European Research Council; Horizon 2020 Framework Programme; Fonds Wetenschappelijk Onderzoek; Hartstichting; Fondation Leducq; Vlaamse regering; Universiteit Antwerpen","keywords":"Biology; Connective Tissue Disorder; Phenotype; Transforming growth factor; Transforming growth factor beta; Mutation; Bioinformatics; Genetics; Hypertelorism; Cancer research; Gene; Signal transduction; Cell biology; Medicine; Pathology","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":[0.0007138079,0.0006711045,0.0010116,0.003281007,0.0002615866,0.0009167162,0.0009000486,0.001152938,0.008368977],"category_scores_gemma":[0.001483087,0.0002721012,0.0007018794,0.001772923,0.0002643502,0.00136315,0.0006840423,0.001344184,0.00418891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004016677,"about_ca_system_score_gemma":0.0008431046,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007642083,"about_ca_topic_score_gemma":0.001820891,"domain_scores_codex":[0.9996934,0.00004074553,0.00007838597,0.00006802884,0.00008763446,0.00003181522],"domain_scores_gemma":[0.9990296,0.0003855622,0.0001153691,0.00003055656,0.0003137507,0.0001251023],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.000231978,0.00008567771,0.001182185,0.008910624,0.0002366847,0.003070156,0.0001237777,0.0003065049,0.008712661,0.001948049,0.2481555,0.7270362],"study_design_scores_gemma":[0.0000202734,0.00007869997,0.001310008,0.001488102,0.0002563888,0.007247817,0.00003386936,0.00006361464,0.0007407123,0.0005981773,0.9881446,0.00001764582],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.002622867,0.9678158,0.002608317,0.006453378,0.01000036,0.00003709115,0.001165944,0.0002733464,0.009023072],"genre_scores_gemma":[0.007321157,0.9575711,0.004792256,0.006066455,0.01094556,0.00005088983,0.003462342,0.00008808988,0.009702126],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008368977,"threshold_uncertainty_score":0.02799702,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02279954055254341,"score_gpt":0.3080363563899923,"score_spread":0.2852368158374489,"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."}}