Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R48H
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TERT

NM_198253.3:p.R48H

Associated Papers

The genomic and transcriptional landscape of primary central nervous system lymphoma.

Radke J et al.

Nature Communications, 2022

35538064 (PubMed )
Supplement: 41467_2022_30050_MOESM8_ESM.xlsx › PCNSL

Human telomerase domain interactions capture DNA for TEN domain-dependent processive elongation.

Robart AR et al.

Molecular Cell, 2011

Medical genetics and epigenetics of telomerase.

Koziel JE et al.

Journal of Cellular and Molecular Medicine, 2011

Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.

Robart AR et al.

The Journal of Biological Chemistry, 2010

Genetic and environmental factors influencing human diseases with telomere dysfunction.

Ly H

International Journal of Clinical and Experimental Medicine, 2009

Telomere maintenance and human bone marrow failure.

Calado RT et al.

Blood, 2008

[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 TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Yamaguchi H et al.

The New England Journal of Medicine, 2005

Functional characterization of telomerase RNA variants found in patients with hematologic disorders.

Ly H et al.

Blood, 2005

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A et al.

Expert Reviews in Molecular Medicine, 2004

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