Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.P112delFs
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TERT

NM_198253.3:p.P112delFs

Associated Papers

Molecular classification and outcomes in pediatric aplastic anemia with myeloid neoplasm-associated gene variants.

Li D et al.

Frontiers in Pediatrics, 2025

Pediatric therapy-related hematologic neoplasms show enrichment for KMT2A rearrangement and lymphoblastic phenotype.

Kovach AE et al.

Leukemia & Lymphoma, 2024

39116419 (PubMed )
Supplement: supplement_1.zip › Supplementary_files › Supp_Table_7.xlsx › Suppl_Table_7

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Next-Generation Sequencing Comparative Analysis of DNA Mutations between Blood-Derived Extracellular Vesicles and Matched Cancer Tissue in Patients with Grade 4 Glioblastoma.

Rosa P et al.

Biomedicines, 2022

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM4_ESM.xls › phenotype_detail_novel

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ et al.

Biochimie, 2008

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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."