Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.W4*
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DMD

NM_004006.3:p.W4*

Associated Papers

Mutation profile of non-small cell lung cancer revealed by next generation sequencing.

Chang YS et al.

Respiratory Research, 2021

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Torella A et al.

Plos One, 2020

Comprehensive genetic characteristics of dystrophinopathies in China.

Ma P et al.

Orphanet Journal of Rare Diseases, 2018

29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Tuffery-Giraud S et al.

Human Mutation, 2009

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Gurvich OL et al.

Human Mutation, 2009

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

Vieitez I et al.

Neurologia (barcelona, Spain), 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."