Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.K39N
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DKC1

NM_001363.5:p.K39N

Associated Papers

The biology and management of dyskeratosis congenita and related disorders of telomeres.

Tummala H et al.

Expert Review of Hematology, 2022

Telomere maintenance and human bone marrow failure.

Calado RT et al.

Blood, 2008

Telomeres and aging.

Aubert G et al.

Physiological Reviews, 2008

Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.

de la Fuente J et al.

Pediatric Transplantation, 2007

Functional characterization of telomerase RNA variants found in patients with hematologic disorders.

Ly H et al.

Blood, 2005

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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."