Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E1074*
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DMD

NM_004006.3:p.E1074*

Associated Papers

Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

Chamova T et al.

Balkan Journal of Medical Genetics : Bjmg, 2013

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

Buzin CH et al.

Human Mutation, 2005

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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."