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DMD c.7310_7311delinsAA ;(p.S2437*)
Variant ID: X-31792308-AG-TT
NM_004006.2(
DMD
):c.7310_7311delinsAA;(p.S2437*)
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:
Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene.
Genes
Xie, Zhiying Z; Tang, Liuqin L; Xie, Zhihao Z; Sun, Chengyue C; Shuai, Haoyue H; Zhou, Chao C; Liu, Yilin Y; Yu, Meng M; Zheng, Yiming Y; Meng, Lingchao L; Zhang, Wei W; Leal, Suzanne M SM; Wang, Zhaoxia Z; Schrauwen, Isabelle I; Yuan, Yun Y
Publication Date: 2020-10-10
Variant appearance in text: DMD: Ser2437Ter
PubMed Link:
33050418
Variant Present in the following documents:
Main text
genes-11-01180.pdf
View BVdb publication page