DMD c.8299G>T ;(p.E2767*)

Variant ID: X-31525489-C-A

NM_004006.2(DMD):c.8299G>T;(p.E2767*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Bmc Medical Genetics
Zhang, Jingjing J; Ma, Dingyuan D; Liu, Gang G; Wang, Yuguo Y; Liu, An A; Li, Li L; Luo, Chunyu C; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019-11-14

Variant appearance in text: DMD: E2767*
PubMed Link: 31727011
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_912.pdf
View BVdb publication page