Varaico: Literature-Extracted Genetic Variants

Gene:RRN3
Variant:p.A20T
Back to variants list

RRN3

NM_018427.5:p.A20T

Associated Papers

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.

Marrone A et al.

Blood, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."