Publications:

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.

Frontiers In Genetics

Fan, Yanbin Y; Xu, Zhifei Z; Li, Xing X; Gao, Feng F; Guo, Enyu E; Chang, Xingzhi X; Wei, Cuijie C; Zhang, Cheng C; Yu, Qing Q; Que, Chengli C; Xiao, Jiangxi J; Yan, Chuanzhu C; Wang, Zhaoxia Z; Yuan, Yun Y; Xiong, Hui H

Publication Date: 2022

Variant appearance in text: GC: 7_8insGGGCC

PubMed Link: 35368679

Variant Present in the following documents:

• fgene-13-825793.pdf

View BVdb publication page