<i>NPC1</i> silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient - Concepedia

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<i>NPC1</i> silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

DOI Full Paper Access

15

Citations

30

References

2020

Year

Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Castro‐Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles,

Molecular Genetics & Genomic Medicine

Abstract

We showed that the NPC1 silent polymorphism (p.V562V) is a disease-causing variant in NPC and that the UPR is upregulated in an NPC patient.

References

	Year	Citations

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