DMD c.3603+2053G>C

DMD c.3603+2053G>C

Variant ID: X-32470726-C-G

NM_004006.2(DMD):c.3603+2053G>C

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: 3603+2053G>C

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: 3603+2053G>C

PubMed Link: 32176650

Variant Present in the following documents:

Main text

View BVdb publication page