Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q2898*
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DMD

NM_004006.3:p.Q2898*

Associated Papers

A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.

Chen J et al.

Molecular Genetics and Genomics : Mgg, 2021

Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.

Nerakh G et al.

Journal of Pediatric Genetics, 2021

Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.

Tallapaka K et al.

Indian Pediatrics, 2019

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Mercier S et al.

European Journal of Human Genetics : Ejhg, 2013

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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."