{"doi":"10.1038/hgv.2015.18","title":"A novel MED12 mutation associated with non-specific X-linked intellectual disability","abstract":null,"journal":"Human Genome Variation","year":2015,"id":645026,"datarank":0.4566783656585135,"base_score":3.044522437723423,"endowment":3.044522437723423,"self_citation_contribution":0.4566783656585135,"citation_network_contribution":0.0,"self_endowment_contribution":0.4566783656585135,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":20,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"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":1679330,"name":"Keiko Shimojima","orcid":null,"position":1,"is_corresponding":false},{"id":42110,"name":"Toshiyuki Yamamoto","orcid":"0000-0002-9484-3505","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A novel MED12 mutation associated with non-specific X-linked intellectual disability","abstract":"The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synonymous single-nucleotide variant, p.Ile1023Val, in a male patient with non-specific X-linked intellectual disability (XLID). Our results, together with the existence of similar reports, suggest a relationship between MED12 variants and XLID.","is_dataset_classified":null,"base_score":3.044522437723423,"endowment":3.044522437723423,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"27081531","pmcid":"PMC4785543","openalex_id":"https://openalex.org/W2417315456","authors":[],"funders":[],"total_grants":0,"fwci":2.0253,"citation_percentile":0.87980456,"influential_citations":0,"citation_trend":[{"year":2015,"count":1},{"year":2016,"count":3},{"year":2017,"count":3},{"year":2018,"count":2},{"year":2019,"count":4},{"year":2020,"count":4},{"year":2021,"count":2},{"year":2022,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.nature.com/articles/hgv201518.pdf","host_type":"journal"},{"url":"https://www.nature.com/articles/hgv201518.pdf","host_type":"publisher"},{"url":"https://www.nature.com/articles/hgv201518","host_type":"publisher"},{"url":"https://doi.org/10.1038/hgv.2015.18","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/27081531","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4785543","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC4785543","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC4785543?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Genetics and Neurodevelopmental Disorders","Epigenetics and DNA Methylation","RNA modifications and cancer"],"mesh_terms":[],"keywords":["Intellectual disability","Blepharophimosis","Genetics","Gene","Mutation","Medicine","Biology","Ptosis"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Quality Education"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-09T02:39:01.017311Z","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":[]}