{"doi":"10.1016/j.thromres.2012.02.008","title":"Identification of an ancient haemophilia A splice site mutation","abstract":null,"journal":"Thrombosis Research","year":2012,"id":33452,"datarank":0.676842323781903,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.3649260925299275,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.3649260925299275,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":6,"citers_with_citation_signal":5,"citers_with_endowment":5,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":17015,"name":"Arndt von Haeseler","orcid":"0000-0002-3366-4458","position":1,"is_corresponding":false},{"id":175016,"name":"Birgit Horvath","orcid":null,"position":2,"is_corresponding":false},{"id":175017,"name":"Raute Sunder-Plassmann","orcid":null,"position":3,"is_corresponding":false},{"id":175018,"name":"Vera Tiedje","orcid":null,"position":4,"is_corresponding":false},{"id":175019,"name":"Ingrid Pabinger","orcid":null,"position":5,"is_corresponding":false},{"id":175020,"name":"Christine Mannhalter","orcid":null,"position":6,"is_corresponding":false},{"id":175015,"name":"Sylvia Reitter-Pfoertner","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"22401796","pmcid":null,"openalex_id":"https://openalex.org/W2146433281","authors":[],"funders":[],"total_grants":0,"fwci":0.5225,"citation_percentile":0.68221605,"influential_citations":0,"citation_trend":[{"year":2012,"count":2},{"year":2013,"count":1},{"year":2016,"count":2},{"year":2017,"count":1},{"year":2018,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/tdm/userlicense/1.0/","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0049384812000552?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0049384812000552?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.thromres.2012.02.008","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/22401796","host_type":"repository"}],"fields_of_study":["Hemophilia Treatment and Research","Coagulation, Bradykinin, Polyphosphates, and Angioedema","Blood properties and coagulation","Biology","Medicine","Austria","Factor VIII","Female","Founder Effect","Genetic Carrier Screening","Genetic Predisposition to Disease","Hemophilia A","Heterozygote","Humans","Introns","Male","Middle Aged","Mutation","RNA Splice Sites"],"mesh_terms":["Austria","Factor VIII","Female","Hemophilia A","Heterozygote","Genetic Carrier Screening","Humans","Introns","Male","Middle Aged","Mutation","Founder Effect","Genetic Predisposition to Disease","RNA Splice Sites"],"keywords":["Haplotype","Genetics","Frameshift mutation","Mutation","Biology","Intron","Splice site mutation","Exon","Founder effect","splice","RNA splicing","Haemophilia A","Nonsense mutation","Transition (genetics)","Gene","Haemophilia","Alternative splicing","Genotype","RNA"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-09T16:16:30.976295Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}