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Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis

SIMPLE SUMMARY: Even though in monogenic diseases a mutation will lead to a “classic” manifestation, many disorders exhibit great clinical variability that could be due to modifying genes also called minor genes. Fabry disease (FD) is an X-linked inborn error resulting from the deficient or absent a...

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Detalles Bibliográficos
Autores principales: Ruiz Ramírez, Andrea Virginia, Prado Montes de Oca, Ernesto, Figuera, Luis E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9495465/
https://www.ncbi.nlm.nih.gov/pubmed/36138766
http://dx.doi.org/10.3390/biology11091287