Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R15H
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TERT

NM_198253.3:p.R15H

Associated Papers

Somatic genetic rescue of a germline ribosome assembly defect.

Tan S et al.

Nature Communications, 2021

34413298 (PubMed )
Supplement: 41467_2021_24999_MOESM2_ESM.xlsx › Feuil1

Droplet-digital PCR reveals frequent mutations in TERT promoter region in breast fibroadenomas and phyllodes tumours, irrespective of the presence of MED12 mutations.

Otsuji K et al.

British Journal of Cancer, 2021

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Cardoso SR et al.

Leukemia, 2016

MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast.

Piscuoglio S et al.

Histopathology, 2015

Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma.

Dono M et al.

British Journal of Cancer, 2014

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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."