Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.S12Y
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TERT

NM_198253.3:p.S12Y

Associated Papers

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Insalaco A et al.

European Journal of Medical Genetics, 2026

Evaluation of Combined Chemotherapy and Genomic-Driven Targeted Therapy in Patient-Derived Xenografts Identifies New Therapeutic Approaches in Squamous Non-Small-Cell Lung Cancer Patients.

Decaudin D et al.

Cancers, 2024

39199558 (PubMed )
Supplement: cancers-16-02785-s001.zip › cancers-3122851-supplementary.pdf

Diagnostic utility of telomere length testing in a hospital-based setting.

Alder JK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29463756 (PubMed )
Supplement: pnas.201720427SI.pdf

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.

Silhan LL et al.

The European Respiratory Journal, 2014

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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."