Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.G381D
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DKC1

NM_001363.5:p.G381D

Associated Papers

A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.

Hiramatsu H et al.

Pediatric Hematology and Oncology, 2002

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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."