Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.G2364delFs
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DSP

NM_004415.4:p.G2364delFs

Associated Papers

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Norgett EE et al.

Human Molecular Genetics, 2000

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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."