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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DSP

Variant:p.D300E

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DSP

NM_004415.4:p.D300E

hg38:chr6:7565481 C>A

Associated Papers

PANoptosis is a prominent feature of desmoplakin cardiomyopathy.

Olcum M et al.

The Journal of Cardiovascular Aging, 2023

36818425 (PubMed )

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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."