Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.G166V
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DMD

NM_004006.3:p.G166V

Associated Papers

Generation of five induced pluripotent stem cell lines with DMD/c.497G > T mutation from renal epithelial cells of a Duchenne muscular dystrophy patient and a recessive carrier parent.

Su J et al.

Stem Cell Research, 2020

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

Juan-Mateu J et al.

Plos One, 2015

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Juan-Mateu J et al.

Plos One, 2013

Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.

Yang YM et al.

Journal of Zhejiang University. Science. B, 0

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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."