Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E1925*
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DMD

NM_004006.3:p.E1925*

Associated Papers

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Yun U et al.

Plos One, 2021

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

Park HJ et al.

Clinical Genetics, 2017

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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