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DMD c.1331+13952_1331+14010del
Variant ID: X-32648239-GTGTTAATGAAATCTGTCAGCTTTTCTTTGTCTTAGAAAGTCTTCATTTCTCCTTCAAGT-G
NM_004006.2(
DMD
):c.1331+13952_1331+14010del
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:
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022
Variant appearance in text: DMD: 1331+2382_1331+14010del
PubMed Link:
35754842
Variant Present in the following documents:
DataSheet1.xlsx, sheet 1
View BVdb publication page
Pseudoexons of the DMD Gene.
Journal Of Neuromuscular Diseases
Keegan, Niall P NP
Publication Date: 2020
Variant appearance in text: DMD: 1331+2382_1331+14010del
PubMed Link:
32176650
Variant Present in the following documents:
Main text
View BVdb publication page