{"database":"EVA","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Vcf":["ftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB65722/191147-WGS.dragen.cnv.vcf.gz","ftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB65722/191147-WGS.dragen.cnv.vcf.gz.csi"],"Other":["ftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB65722/191147-WGS.dragen.cnv.vcf.csi"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"dataset_type":["Whole Genome Sequencing"],"omics_type":["Genomics"],"submitter":["Hospital Universitari de Bellvitge"],"instrument_platform":["Illumina NovaSeq 6000"],"species":["Homo Sapiens"],"full_dataset_link":["https://www.ebi.ac.uk/eva/?eva-study=PRJEB65722"],"repository":["EVA"],"name_synonyms":["d-FXN, i-FXN, Frataxin intermediate form, Materials, Frda, Genetic, m81-FXN, CyaY, Gene, INSDC_feature:gene, X25, Frataxin(81-210), FARR, Cistrons, Frataxin mature form, Frataxin(78-210), FRDA, DEL, Material, Frataxin(56-210), 1.16.3.1, m78-FXN, Friedreich ataxia protein, Genetic Materials, Cistron, Genetic Material., FA, m56-FXN, Fxn"],"description_synonyms":["Friedreich ataxia with retained reflexes, i-FXN, Frataxin intermediate form, Materials, determination, region or site annotation, Feature, CyaY, Intervening Sequences, familial, UTR, Mini Exon, Gene, Progress Reports, hereditary spinal ataxia, X25, Frataxin(81-210), FARR, Cistrons, Client, Frataxin mature form, Sequences, Intervening Sequence, Frataxin(78-210), Characteristic, Investigative, INSDC_feature:intron, Investigative Report, untranslated region, Sequence, Summary Report, Frataxin(56-210), Research Reports, chemical analysis, Mini-Exon, sequence, Friedreich ataxia protein, Genetic Materials, Hereditary ataxia-Friedreich’s type, Summary Reports, FA, m56-FXN, spinocerebellar ataxia, Fxn, positional, d-FXN, Friedreich, Friedreich's tabes, Frda, positional polypeptide feature, Genetic, Progress Report, m81-FXN, Mini-Exons, Field, Exon, common, patient, INSDC_feature:gene, UTR2, Features, Intervening, sample population, primary structure of sequence macromolecule, genetic, Progress, GPR14, UR-2-R, geographical area, Report, Field Reports, FRDA, Reports, Patient, DEL, Material, Clients, sample, 1.16.3.1, Friedreich's ataxia, m78-FXN, Gpr14, Cistron, inherited genetic, Intron, Characteristics, assay, Genetic Material., Investigative Reports, Summary, constitutitional genetic, hereditary, hereditary spinal sclerosis, Field Report"],"additional_accession":[]},"is_claimable":false,"name":"Identification of a novel deletion on FXN gene","description":"We report a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion. Subsequently, parental sample testing led to the identification of a novel intragenic deletion involving the 5?UTR upstream region and exons 1 and 2 of FXN gene.","dates":{"publication":"2023-09-03"},"accession":"PRJEB65722","cross_references":{"TAXONOMY":["9606"]}}