Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.S3365*
Back to variants list

DMD

NM_004006.3:p.S3365*

Associated Papers

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

van der Meulen MH et al.

Circulation. Genomic and Precision Medicine, 2022

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Sedlácková J et al.

Neuromuscular Disorders : Nmd, 2009

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.

Fajkusová L et al.

Neuromuscular Disorders : Nmd, 2001

Characterization of two nonsense mutations in the human dystrophin gene.

Fajkusová L et al.

Journal of Neurogenetics, 1998

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."