{"id":11373,"date":"2026-02-19T17:00:00","date_gmt":"2026-02-19T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=ec8598434f3d3a8ac11057aa83d09b54"},"modified":"2026-02-19T23:00:00","modified_gmt":"2026-02-19T23:00:00","slug":"bi-allelic-variants-in-fsd1l-cause-retinitis-pigmentosa-with-or-without-neurological-involvement","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/19\/bi-allelic-variants-in-fsd1l-cause-retinitis-pigmentosa-with-or-without-neurological-involvement\/","title":{"rendered":"Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement"},"content":{"rendered":"Bi-allelic ultra-rare variants in FSD1L are identified as a cause of retinitis pigmentosa. One variant identified disrupts the splicing of a retina-enriched isoform. FSD1L localizes to the photoreceptor axoneme, implicating disruption of intracellular trafficking as a possible mechanism for photoreceptor degeneration.","protected":false},"excerpt":{"rendered":"<p>Bi-allelic ultra-rare variants in FSD1L are identified as a cause of retinitis pigmentosa. One variant identified disrupts the splicing of a retina-enriched isoform. FSD1L localizes to the photoreceptor axoneme, implicating disruption of intracellular &#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-11373","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11373","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=11373"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11373\/revisions"}],"predecessor-version":[{"id":11467,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11373\/revisions\/11467"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=11373"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=11373"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=11373"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}