Papers: 10.1002/mgg3.1451

https://doi.org/10.1002/mgg3.1451

<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

Cited by: 5
Author(s): Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo H.M. Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão‐Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves
Published: almost 5 years ago

Software Mentions 1