Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much observations available described the synonymous...

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Bibliographic Details
Main Authors: Pengzhen Jin, Kai Yan, Shaofen Ye, Yeqing Qian, Zaigui Wu, Miaomiao Wang, Yuqing Xu, Yanfei Xu, Minyue Dong
Format: article
Language:EN
Published: Frontiers Media S.A. 2021
Subjects:
NF1
Online Access:https://doaj.org/article/df144d869635461d874a6ab5a2f51ce0
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