{"id":"W3120592408","doi":"10.1002/ajmg.a.62067","title":"Interfamilial clinical variability in four <scp>Polish</scp> families with cranioectodermal dysplasia and identical compound heterozygous variants in <scp><i>WDR35</i></scp>","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Nova Scotia Health Authority; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu","keywords":"Compound heterozygosity; Craniofacial; Phenotype; Genetics; Dysplasia; Genetic heterogeneity; Biology; Ectodermal dysplasia; Pathology; Medicine; 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":[0.0002938403,0.001215808,0.0005371,0.00164274,0.001256776,0.0005873475,0.000450608,0.0006342128,0.001411333],"category_scores_gemma":[0.001598688,0.00050551,0.0005448246,0.0007854833,0.0009310082,0.0002716688,0.001090091,0.000447157,0.0001645497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004559337,"about_ca_system_score_gemma":0.0003268322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005122441,"about_ca_topic_score_gemma":0.004571379,"domain_scores_codex":[0.9994535,0.00007307151,0.0000878342,0.0002077015,0.00009662196,0.0000812807],"domain_scores_gemma":[0.9994948,0.0001191288,0.0001697189,0.0000455017,0.0000560207,0.0001149203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00115062,0.0003964007,0.5953357,0.0001304514,0.00044317,0.292359,0.005522353,0.0004775622,0.07878465,0.0005324178,0.0005736643,0.02429411],"study_design_scores_gemma":[0.00009935698,0.000635654,0.6033599,0.00003506856,0.0002176932,0.3875637,0.0009051147,0.000682893,0.004654328,0.0002240159,0.001561068,0.00006127035],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991478,0.00009765432,0.0002896608,0.00002551343,0.000003195751,0.00001688636,0.00005985525,0.000008282722,0.0003512833],"genre_scores_gemma":[0.9990414,0.0001190071,0.0003837021,0.00003897402,0.000005435017,0.00001368989,0.0001603071,0.000009453766,0.0002278912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005122441,"threshold_uncertainty_score":0.0101853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01272332299005482,"score_gpt":0.2870064846668661,"score_spread":0.2742831616768113,"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."}}