Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.G260D
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TERT

NM_198253.3:p.G260D

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf

The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Kapuria D et al.

Hepatology (baltimore, Md.), 2019

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.

Zhang Y et al.

Plos One, 2014

Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.

Calado RT et al.

European Journal of Clinical Investigation, 2009

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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."