Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.L289_E290insFs
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DKC1

NM_001363.5:p.L289_E290insFs

Associated Papers

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Walne AJ et al.

Blood, 2008

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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."