DMD c.7310_7311delinsAA ;(p.S2437*)

Variant ID: X-31792308-AG-TT

NM_004006.2(DMD):c.7310_7311delinsAA;(p.S2437*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene.

Genes
Xie, Zhiying Z; Tang, Liuqin L; Xie, Zhihao Z; Sun, Chengyue C; Shuai, Haoyue H; Zhou, Chao C; Liu, Yilin Y; Yu, Meng M; Zheng, Yiming Y; Meng, Lingchao L; Zhang, Wei W; Leal, Suzanne M SM; Wang, Zhaoxia Z; Schrauwen, Isabelle I; Yuan, Yun Y
Publication Date: 2020-10-10

Variant appearance in text: DMD: Ser2437Ter
PubMed Link: 33050418
Variant Present in the following documents:
  • Main text
  • genes-11-01180.pdf
View BVdb publication page