{"id":"W1993912494","doi":"10.1016/j.bone.2010.10.164","title":"A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date","year":2010,"lang":"en","type":"article","venue":"Bone","topic":"Heterotopic Ossification and Related Conditions","field":"Medicine","cited_by":59,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Knut och Alice Wallenbergs Stiftelse; Karolinska Institutet; Novartis Foundation; Stiftelsen för Strategisk Forskning; University of Oxford; Ontario Genomics Institute; Canada Foundation for Innovation; Wellcome Trust; Ontario Ministry of Research, Innovation and Science; Ontario Genomics; Stiftelsen för Strategisk Forskning; Genome Canada; Ontario Innovation Trust; Merck; GlaxoSmithKline","keywords":"Fibrodysplasia ossificans progressiva; Heterotopic ossification; Serine; Myositis ossificans; Ossification; Mutation; Genetics; Mutant; Medicine; Biology; Pathology; Phosphorylation; Anatomy; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002939443,0.00126793,0.0006219732,0.001803425,0.0007695229,0.0007817723,0.001355732,0.003304072,0.001671258],"category_scores_gemma":[0.002493965,0.0003099343,0.0007198594,0.0008179573,0.00146735,0.0005718891,0.0005078638,0.0009542406,0.0006281575],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004068654,"about_ca_system_score_gemma":0.0003902006,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008972308,"about_ca_topic_score_gemma":0.0009178275,"domain_scores_codex":[0.9995622,0.00003994175,0.00005498285,0.000153257,0.00008463811,0.0001051003],"domain_scores_gemma":[0.9982533,0.0006836371,0.0005284345,0.0001316024,0.00009233388,0.0003106625],"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":[0.0001086506,0.00002916947,0.006882073,0.00004845066,0.00002704028,0.9684042,0.0001717515,0.0001651507,0.02170954,0.0003649412,0.0001722711,0.00191669],"study_design_scores_gemma":[0.00002494419,0.0001042578,0.009250185,0.000008704382,0.00003183894,0.985104,0.00006250878,0.0002474964,0.004462934,0.0001405485,0.0005459451,0.00001658167],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939885,0.001410212,0.0009088874,0.0003180205,0.00008996531,0.00002493728,0.0002270796,0.00006967073,0.002962708],"genre_scores_gemma":[0.9989077,0.0001174098,0.0003839311,0.00005296856,0.00005440058,0.00000460203,0.00007002347,0.000008945515,0.0003999677],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003304072,"threshold_uncertainty_score":0.005590916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02686873657249391,"score_gpt":0.31927490812485,"score_spread":0.2924061715523562,"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."}}