Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.A130V
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TERT

NM_198253.3:p.A130V

Associated Papers

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

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Kapuria D et al.

Hepatology (baltimore, Md.), 2019

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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."