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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DKC1

Variant:p.G178A

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DKC1

NM_001363.5:p.G178A

hg38:chrX:154767275 G>C

Associated Papers

The genetics of dyskeratosis congenita.

Mason PJ et al.

Cancer Genetics, 2011

22285015 (PubMed )

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

Marrone A et al.

Haematologica, 2007

17640862 (PubMed )

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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."