Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V119M
Back to variants list

TERT

NM_198253.3:p.V119M

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

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

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Collopy LC et al.

Blood, 2015

Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.

Lam DC et al.

Oncotargets and Therapy, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."