{"doi":"10.1093/hmg/3.1.195","title":"A missense mutation (211His-Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family","abstract":null,"journal":"Human Molecular Genetics","year":1994,"id":658677,"datarank":0.5837730447165941,"base_score":3.8918202981106265,"endowment":3.8918202981106265,"self_citation_contribution":0.5837730447165941,"citation_network_contribution":0.0,"self_endowment_contribution":0.5837730447165941,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":48,"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":1719454,"name":"N. Liecha","orcid":null,"position":1,"is_corresponding":false},{"id":1719455,"name":"J. Antich","orcid":null,"position":2,"is_corresponding":false},{"id":1719457,"name":"E. Gean","orcid":null,"position":3,"is_corresponding":false},{"id":1719459,"name":"I. Tejada","orcid":null,"position":4,"is_corresponding":false},{"id":1719461,"name":"M. Molina","orcid":null,"position":5,"is_corresponding":false},{"id":1719463,"name":"J. Reventos","orcid":null,"position":6,"is_corresponding":false},{"id":180840,"name":"M. Carballo","orcid":null,"position":7,"is_corresponding":false},{"id":1719453,"name":"C. Reig","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A missense mutation (211His-Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family","abstract":"Carlos Reig, Nuria Liecha, Jaume Antich, Esther Gean, Isabel Tejada, Manuel Molina, Jaume Reventós, Miguel Carballo; A missense mutation (211His–Arg) and a","is_dataset_classified":null,"base_score":3.8918202981106265,"endowment":3.8918202981106265,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"8162026","pmcid":null,"openalex_id":"https://openalex.org/W1971452416","authors":[],"funders":[],"total_grants":0,"fwci":5.87,"citation_percentile":0.97094386,"influential_citations":0,"citation_trend":[],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://academic.oup.com/hmg/article-pdf/3/1/195/1628487/3-1-195.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1093/hmg/3.1.195","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/8162026","host_type":"repository"},{"url":"http://hmg.oxfordjournals.org/cgi/content/short/3/1/195","host_type":"repository"}],"fields_of_study":["Retinal Development and Disorders","Photoreceptor and optogenetics research","Advanced biosensing and bioanalysis techniques","Amino Acid Sequence","Arginine","Base Sequence","DNA","Exons","Female","Genes, Dominant","Histidine","Humans","Male","Molecular Sequence Data","Pedigree","Point Mutation","Polymerase Chain Reaction","Retinitis Pigmentosa","Rhodopsin","Spain","Threonine"],"mesh_terms":["Amino Acid Sequence","Arginine","Base Sequence","DNA","Exons","Female","Genes, Dominant","Histidine","Humans","Male","Molecular Sequence Data","Pedigree","Retinitis Pigmentosa","Rhodopsin","Spain","Threonine","Polymerase Chain Reaction","Point Mutation"],"keywords":["Missense mutation","Humanities","Genetics","Library science","Medicine","Mutation","Biology","Philosophy","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-12T05:01:46.047027Z","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":[]}