Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.K39R
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DKC1

NM_001363.5:p.K39R

Associated Papers

N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.

MacNeil DE et al.

Nucleic Acids Research, 2019

Human dyskerin: beyond telomeres.

Angrisani A et al.

Biological Chemistry, 2014

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

Brault ME et al.

Human Molecular Genetics, 2013

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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."