Novel deep intronic and frameshift mutations causing a TRIP11 ‐related disorder
Author:
Affiliation:
1. Women's Hospital School of Medicine, Zhejiang University Zhejiang China
2. Key Laboratory of Reproductive Genetics (Zhejiang University) Ministry of Education, 1, Xueshi Road Zhejiang China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62260
Reference16 articles.
1. Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency
2. The Golgin GMAP210/TRIP11 Anchors IFT20 to the Golgi Complex
3. Medical implications of technical accuracy in genome sequencing
4. Intron retention as a component of regulated gene expression programs
5. Expanding the phenome and variome of skeletal dysplasia
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