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DMD c.1072G>A ;(p.A358T)
Variant ID: X-32663158-C-T
NM_004006.2(
DMD
):c.1072G>A;(p.A358T)
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:
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Journal Of Medical Genetics
Fan, Yanbin Y; Tan, Dandan D; Song, Danyu D; Zhang, Xu X; Chang, Xingzhi X; Wang, Zhaoxia Z; Zhang, Cheng C; Chan, Sophelia Hoi-Shan SH; Wu, Qixi Q; Wu, Liwen L; Wang, Shuang S; Yan, Hui H; Ge, Lin L; Yang, Haipo H; Mao, Bing B; Bönnemann, Carsten C; Liu, Jingying J; Wang, Suxia S; Yuan, Yun Y; Wu, Xiru X; Zhang, Hong H; Xiong, Hui H
Publication Date: 2021-05
Variant appearance in text: DMD: 1072G>A
PubMed Link:
32571898
Variant Present in the following documents:
Main text
jmedgenet-2019-106671.pdf
View BVdb publication page