Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.H296P
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TERT

NM_198253.3:p.H296P

Associated Papers

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Reilly CR et al.

Blood, 2021

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N et al.

Breast Cancer Research : Bcr, 2018

29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3

Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

Donati B et al.

Cancer Medicine, 2017

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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."