Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.P78L
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DKC1

NM_001363.5:p.P78L

Associated Papers

Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in Dictyostelium Discoideum.

Rodriguez-Centeno J et al.

Cells, 2019

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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."