{"id":"W2029419918","doi":"10.1002/ajmg.a.36808","title":"An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (<i>LBR</i>) gene mutations: Further definition of the phenotypic heterogeneity of <i>LBR</i>‐bone dysplasias","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute","keywords":"Compound heterozygosity; Loss of heterozygosity; Exome sequencing; Genetics; Biology; Phenotype; Dysplasia; Mutation; Gene; Allele","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":[0.0001256756,0.0007961509,0.0004881779,0.0007936576,0.0005741986,0.0003726652,0.0002966665,0.0007694095,0.001217785],"category_scores_gemma":[0.0005287298,0.0003201007,0.0003156884,0.0003510272,0.0007839631,0.0003206973,0.0004152584,0.0006210936,0.0004259768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002399665,"about_ca_system_score_gemma":0.0003622606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001673931,"about_ca_topic_score_gemma":0.002253827,"domain_scores_codex":[0.999817,0.00002679567,0.0000224476,0.00005330744,0.00003630283,0.00004421015],"domain_scores_gemma":[0.9996973,0.00009713331,0.0000816755,0.00001801612,0.00001954138,0.00008637642],"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":[0.000092679,0.00005381926,0.01872437,0.00007627639,0.00001405442,0.9368613,0.0004629041,0.0002377423,0.03828508,0.0007499919,0.0002593901,0.004182484],"study_design_scores_gemma":[0.00001615437,0.0001578523,0.02125655,0.00001116121,0.00001533439,0.9720866,0.0001294114,0.0003111489,0.005014167,0.0001758114,0.0008178512,0.000007941739],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930306,0.0005681652,0.001502818,0.0002320746,0.00002013066,0.00005322247,0.000182519,0.00007498031,0.00433551],"genre_scores_gemma":[0.9967703,0.0003558762,0.001525997,0.0001106144,0.00003209325,0.00001329959,0.00008342507,0.00001760894,0.001090787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001673931,"threshold_uncertainty_score":0.004073918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007228432609794554,"score_gpt":0.2389608939804327,"score_spread":0.2317324613706381,"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."}}