Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.S368F
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TERT

NM_198253.3:p.S368F

Associated Papers

TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

Yu G et al.

Journal of Medical Case Reports, 2025

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.

Dhindsa RS et al.

Communications Biology, 2021

33758299 (PubMed )
Supplement: 42003_2021_1910_MOESM4_ESM.xlsx › ExWAS_p_0.05

Telomere-regulating genes and the telomere interactome in familial cancers.

Robles-Espinoza CD et al.

Molecular Cancer Research : Mcr, 2015

A spectrum of severe familial liver disorders associate with telomerase mutations.

Calado RT et al.

Plos One, 2009

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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."