Publications:

Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.

Annals Of Translational Medicine

Xiao, Tiantian T; Wu, Bingbing B; Cao, Yun Y; Liu, Renchao R; Cheng, Guoqiang G; Wang, Laishuan L; Zhuang, Deyi D; Zhao, Zhengyan Z; Wang, Huijun H; Zhou, Wenhao W

Publication Date: 2021-05

Variant appearance in text: DMD: 5452G>T; Glu1818Ter

PubMed Link: 34268379

Variant Present in the following documents:

• Main text
• atm-09-09-766-prf.pdf
• atm-09-09-766.pdf

View BVdb publication page

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 5452G>T; Glu1818*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

View BVdb publication page