Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.P404R
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TERT

NM_198253.3:p.P404R

Associated Papers

A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.

Gurnari C et al.

Hematological Oncology, 2022

Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.

Tomlinson CG et al.

Leukemia, 2021

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

30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf

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."