Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.1860_1861del ;(p.Y621Ffs*13)
Variant ID: X-32583949-TAC-T
NM_004006.2(
DMD
):c.1860_1861del;(p.Y621Ffs*13)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: DMD: 1860_1861delGT
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page
Clinical and genetic characteristics of female dystrophinopathy carriers.
Molecular Medicine Reports
Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D
Publication Date: 2019-04
Variant appearance in text: DMD: 1860_1861delGT
PubMed Link:
30816495
Variant Present in the following documents:
Main text
mmr-19-04-3035.pdf
View BVdb publication page