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We have identified a novel (NM_213599.2:c.1180+6T&gt;C)\n                    <jats:italic>ANO5<\/jats:italic>\n                    variant that causes the exclusion of exon 12. The mutation, identified in a Roma individual, has an estimated carrier rate of 1.68% among the Iberian Roma population, this being the first\n                    <jats:italic>ANO5<\/jats:italic>\n                    pathogenic variant communicated in this ethnic group. In this study, we have also characterized the\n                    <jats:italic>ANO5<\/jats:italic>\n                    splice forms expressed in human muscle with the detection of an alternative transcript, in which exons 8 and 9 are spliced out.\n                  <\/jats:p>","DOI":"10.1111\/cge.13964","type":"journal-article","created":{"date-parts":[[2021,4,5]],"date-time":"2021-04-05T05:08:16Z","timestamp":1617599296000},"page":"106-110","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel\n                    <scp>\n                      <i>ANO5<\/i>\n                    <\/scp>\n                    intronic Roma variant alters splicing causing muscular dystrophy"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1460-0483","authenticated-orcid":false,"given":"Fabiola","family":"Mavillard","sequence":"first","affiliation":[{"name":"Instituto de Biomedicina de Sevilla (IBiS) Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla  Sevilla Spain"},{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Neurodegenerativas (CIBERNED) Instituto de salud Carlos III  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"Servi\u00e1n\u2010Morilla","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Sevilla (IBiS) Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla  Sevilla Spain"},{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Neurodegenerativas (CIBERNED) Instituto de salud Carlos III  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eloy","family":"Rivas","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Sevilla (IBiS) Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla  Sevilla Spain"},{"name":"Department of Pathology Hospital U. 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