Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.D125A
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DKC1

NM_001363.5:p.D125A

Associated Papers

Control of protein synthesis through mRNA pseudouridylation by dyskerin.

Pederiva C et al.

Science Advances, 2023

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Zhang MY et al.

Haematologica, 2015

H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.

Bellodi C et al.

Cell Reports, 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."