Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.L725F
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TERT

NM_198253.3:p.L725F

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

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

Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.

Canto LM et al.

Cancers, 2022

35884575 (PubMed )
Supplement: cancers-14-03514-s001.zip › cancers-1775552-supplementary.pdf

Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility.

Mio C et al.

Endocrine, 2021

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

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.pdf

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Collopy LC et al.

Haematologica, 2014

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