Varaico: Literature-Extracted Genetic Variants

Gene:RRN3
Variant:p.A2V
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RRN3

NM_018427.5:p.A2V

Associated Papers

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW et al.

American Journal of Human Genetics, 1999

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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."