CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.

Gerard Muñoz-Pujol,Olatz Ugarteburu,Eulàlia Segur-Bailach,Sonia Moliner, Susana Jurado,Glòria Garrabou,Mariona Guitart-Mampel,Judit García-Villoria,Rafael Artuch,Carme Fons,Antonia Ribes,Frederic Tort

Journal of inherited metabolic disease（2023）

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摘要

Our study provides a generic approach to assess the functional impact of genetic variants to improve IMD diagnosis and this tool could emerge as a promising alternative to invasive tests, such as muscular or skin biopsies. Although the study has been performed only in IMDs, this strategy is generic and could be applied to other genetic disorders. This article is protected by copyright. All rights reserved.

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关键词

cell models, CRISPR/Cas9, HAP1, inherited metabolic disorders, knock-in, variant of uncertain significance

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