Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.D165V
Back to variants list

DMD

NM_004006.3:p.D165V

Associated Papers

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Alcántara-Ortigoza MA et al.

Genes, 2019

The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Gao QQ et al.

Comprehensive Physiology, 2015

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Juan-Mateu J et al.

Plos One, 2015

Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.

Henderson DM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

Dent KM et al.

American Journal of Medical Genetics. Part A, 2005

Rapid direct sequence analysis of the dystrophin gene.

Flanigan KM et al.

American Journal of Human Genetics, 2003

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."