{"id":5016,"date":"2021-06-22T04:14:22","date_gmt":"2021-06-22T04:14:22","guid":{"rendered":"https:\/\/blogs.sld.cu\/oserranob\/?p=5016"},"modified":"2021-06-22T04:14:22","modified_gmt":"2021-06-22T04:14:22","slug":"polimorfismos-variantes-mutaciones-enfermedades-neurodegenerativas","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2021\/06\/22\/polimorfismos-variantes-mutaciones-enfermedades-neurodegenerativas\/","title":{"rendered":"Polimorfismos, variantes, mutaciones: enfermedades neurodegenerativas"},"content":{"rendered":"<p style=\"text-align: justify\">&#8211; <a title=\"Texto completo en ingl\u00e9s\" href=\"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-021-00913-y\" target=\"_blank\">Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms<\/a><br \/>\n&#8211; <a title=\"Texto completo en ingl\u00e9s\" href=\"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-021-00878-y\" target=\"_blank\">Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases<\/a><br \/>\n&#8211; <a title=\"Texto completo en ingl\u00e9s\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929721001397\" target=\"_blank\">Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature<\/a><br \/>\n&#8211; <a title=\"Texto completo en ingl\u00e9s\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S000292972100183X\" target=\"_blank\">Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder<\/a><br \/>\n&#8211; <a title=\"Texto completo en ingl\u00e9s\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929721001488\" target=\"_blank\">Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>&#8211; Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms &#8211; Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases &#8211; Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature &#8211; Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder &#8211; Impaired glucose-1,6-biphosphate [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[15,25,26,29],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/5016"}],"collection":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/users\/125"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/comments?post=5016"}],"version-history":[{"count":1,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/5016\/revisions"}],"predecessor-version":[{"id":5017,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/5016\/revisions\/5017"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=5016"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=5016"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=5016"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}