Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.D60N
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DKC1

NM_001363.5:p.D60N

Associated Papers

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

Tummala H et al.

Expert Review of Hematology, 2022

The genetics of dyskeratosis congenita.

Mason PJ et al.

Cancer Genetics, 2011

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M et al.

British Journal of Haematology, 2009

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Marrone A et al.

Haematologica, 2007

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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."