Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.H876Q
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TERT

NM_198253.3:p.H876Q

Associated Papers

Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.

Balch S et al.

Nature Communications, 2026

41565648 (PubMed )
Supplement: 41467_2026_68560_MOESM3_ESM.xlsx › Sheet1

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.

Niaz A et al.

Blood Advances, 2022

35477117 (PubMed )
Supplement: advancesADV2022007029-suppl1.pdf

Medical genetics and epigenetics of telomerase.

Koziel JE et al.

Journal of Cellular and Molecular Medicine, 2011

Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.

Hills M et al.

Annals of the New York Academy of Sciences, 2009

Genetic and environmental factors influencing human diseases with telomere dysfunction.

Ly H

International Journal of Clinical and Experimental Medicine, 2009

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Du HY et al.

Blood, 2009

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Du HY et al.

Blood, 2008

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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."