{"doi":"10.1002/humu.24185","title":"MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing","abstract":"Splice site variants may lead to transcript alterations, causing exons inclusion, exclusion, truncation, or intron retention. Interpreting the consequences of a specific splice site variant is not straightforward, especially if the variant is located outside of the canonical splice sites. We developed MutSpliceDB: https://brb.nci.nih.gov/splicing, a public resource to facilitate the interpretation of splice sites variants effects on splicing based on manually reviewed RNA-seq BAM files from samples with splice site variants.","journal":"Human Mutation","year":2021,"id":176123,"datarank":0.9726887947356597,"base_score":3.091042453358316,"endowment":3.091042453358316,"self_citation_contribution":0.4636563680037475,"citation_network_contribution":0.5090324267319122,"self_endowment_contribution":0.4636563680037475,"citer_contribution":0.5090324267319122,"corpus_percentile":79.17536938191382,"corpus_rank":2693,"citation_count":21,"citer_count":20,"citers_with_citation_signal":17,"citers_with_endowment":17,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.8502,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":291170,"name":"Suleyman Vural","orcid":"0000-0002-7777-5256","position":1,"is_corresponding":false},{"id":492481,"name":"Yingdong Zhao","orcid":"0000-0002-8514-0293","position":2,"is_corresponding":false},{"id":75568,"name":"Dmitriy Sonkin","orcid":"0000-0002-1649-0652","position":3,"is_corresponding":false},{"id":492478,"name":"Alida Palmisano","orcid":"0000-0002-1859-3719","position":0,"is_corresponding":true}],"reference_count":16,"raw_metadata":null,"created_at":"2026-07-18T23:47:19.591542Z","pmid":"33600011","pmcid":"PMC9867871","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":[]}