Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.D129V
Back to variants list

TERT

NM_198253.3:p.D129V

Associated Papers

Medical genetics and epigenetics of telomerase.

Koziel JE et al.

Journal of Cellular and Molecular Medicine, 2011

[Dyskeratosis congenita, a disease caused by defective telomere maintenance].

Hoareau-Aveilla C et al.

Medecine Sciences : M/s, 2008

Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.

de la Fuente J et al.

Pediatric Transplantation, 2007

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Vulliamy TJ et al.

Blood, 2006

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."