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DMD c.6804_6807del ;(p.K2268Nfs*2)
Variant ID: X-31947817-ATTGT-A
NM_004006.2(
DMD
):c.6804_6807del;(p.K2268Nfs*2)
This variant was identified in 4 publications
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: 6804_6807delACAA; Lys2268Asnfs*2
PubMed Link:
31727011
Variant Present in the following documents:
Main text
12881_2019_Article_912.pdf
View BVdb publication page
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019
Variant appearance in text: DMD: 6804_6807delACAA; Lys2268Asnfs*2
PubMed Link:
30833962
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.
Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09
Variant appearance in text: DMD: 6804_6807delACAA
PubMed Link:
29604111
Variant Present in the following documents:
Main text
View BVdb publication page
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23
Variant appearance in text: DMD: 6804_6807delACAA
PubMed Link:
25612904
Variant Present in the following documents:
Main text
13023_2014_Article_220.pdf
View BVdb publication page