Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.H752R
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TERT

NM_198253.3:p.H752R

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

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Eng ZH et al.

Frontiers in Endocrinology, 2022

36686473 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_2

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Norris K et al.

Human Genetics, 2021

33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf

Genomic profiling of Chinese patients with urothelial carcinoma.

Yang B et al.

Bmc Cancer, 2021

33588785 (PubMed )
Supplement: 12885_2021_7829_MOESM3_ESM.xlsx › Germline_variants
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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."