DMD c.9974+22dup

Variant ID: X-31200832-A-AT

NM_004006.2(DMD):c.9974+22dup

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022

Variant appearance in text: DMD: 9974+22dup
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 1
View BVdb publication page



Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15

Variant appearance in text: DMD: 9974+22dupA
PubMed Link: 34679607
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01910.pdf
View BVdb publication page