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Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

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Published in:Application of Clinical Genetics
Format: Online Article RSS Article
Published: 2026
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container_title Application of Clinical Genetics
description
discipline_display Medical Geneticsx
discipline_facet Medical Geneticsx
format Online Article
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genre Journal Article
id rss_article:62480
institution FRELIP
journal_source_facet Application of Clinical Genetics
last_indexed 2026-06-20T21:27:21.959Z
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
Medical Geneticsx
General
Medical Geneticsx
sub_discipline_display General
sub_discipline_facet General
subject_display Medical Geneticsx
General
Medical Geneticsx
subject_facet Medical Geneticsx
General
Medical Geneticsx
title Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
title_alt Validación Funcional de una Nueva Variante Intrónica Profunda de IMPG2 que Causa Activación de Pseudoexón en Retinitis Pigmentosa con Afectación Macular
Validation fonctionnelle d'un nouveau variant intronique profond d'IMPG2 provoquant l'activation d'un pseudoexon dans la rétinite pigmentaire avec atteinte maculaire
Validação Funcional de uma Nova Variante Intrônica Profunda do IMPG2 Causando Ativação de Pseudoéxon na Retinite Pigmentosa com Envolvimento Macular
title_auth Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
title_es_txt Validación Funcional de una Nueva Variante Intrónica Profunda de IMPG2 que Causa Activación de Pseudoexón en Retinitis Pigmentosa con Afectación Macular
title_fr_txt Validation fonctionnelle d'un nouveau variant intronique profond d'IMPG2 provoquant l'activation d'un pseudoexon dans la rétinite pigmentaire avec atteinte maculaire
title_full Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
title_fullStr Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
title_full_unstemmed Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
title_pt_txt Validação Funcional de uma Nova Variante Intrônica Profunda do IMPG2 Causando Ativação de Pseudoéxon na Retinite Pigmentosa com Envolvimento Macular
title_short Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
title_sort functional validation of a novel deep intronic impg2 variant causing pseudoexon activation in retinitis pigmentosa with macular involvement
topic Medical Geneticsx
General
Medical Geneticsx
url https://www.dovepress.com/functional-validation-of-a-novel-deep-intronic-impg2-variant-causing-p-peer-reviewed-fulltext-article-TACG