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DMD c.1978_1979del ;(p.K660Efs*59)
Variant ID: X-32583831-CTT-C
NM_004006.2(
DMD
):c.1978_1979del;(p.K660Efs*59)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.
Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02
Variant appearance in text: DMD: 1978_1979del; Lys660Glufs*59
PubMed Link:
34078427
Variant Present in the following documents:
13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page
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: 1978_1979delAA; K660Efs*59
PubMed Link:
31727011
Variant Present in the following documents:
Main text
12881_2019_Article_912.pdf
View BVdb publication page
Comprehensive genetic characteristics of dystrophinopathies in China.
Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04
Variant appearance in text: DMD: 1978_1979del; Lys660Glufs*59
PubMed Link:
29973226
Variant Present in the following documents:
13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page