{"id":227795,"date":"2025-12-25T01:09:09","date_gmt":"2025-12-25T07:09:09","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/12\/frameshift-and-copy-number-variants-in-sacs-related-neuropathy"},"modified":"2025-12-25T01:09:09","modified_gmt":"2025-12-25T07:09:09","slug":"frameshift-and-copy-number-variants-in-sacs-related-neuropathy","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/12\/frameshift-and-copy-number-variants-in-sacs-related-neuropathy","title":{"rendered":"Frameshift and Copy Number Variants in SACS-Related Neuropathy"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/frameshift-and-copy-number-variants-in-sacs-related-neuropathy2.jpg\"><\/a><\/p>\n<p>This study delineates the genetic and clinical spectrum of SACS-related inherited peripheral neuropathy\/Charcot-Marie-Tooth disease in Japan, highlighting a higher prevalence of frameshift variants and a notable occurrence of entire SACS gene deletions.<\/p>\n<hr>\n<p>Background and Objectives.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>This study delineates the genetic and clinical spectrum of SACS-related inherited peripheral neuropathy\/Charcot-Marie-Tooth disease in Japan, highlighting a higher prevalence of frameshift variants and a notable occurrence of entire SACS gene deletions. Background and Objectives.<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-227795","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/227795","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=227795"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/227795\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=227795"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=227795"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=227795"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}