Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.K43R
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DKC1

NM_001363.5:p.K43R

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

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."