Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1248P
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TET2

NM_001127208.3:p.L1248P

Associated Papers

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report.

Wang L et al.

Frontiers in Oncology, 2024

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Wu X et al.

Bmc Cancer, 2022

35279121 (PubMed )
Supplement: 12885_2022_9347_MOESM5_ESM.xlsx › Somatic_TET2_mutation

Mutated clones driving leukemic transformation are already detectable at the single-cell level in CD34-positive cells in the chronic phase of primary myelofibrosis.

Parenti S et al.

Npj Precision Oncology, 2021

Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell.

Yao WQ et al.

The Journal of Pathology, 2020

31859368 (PubMed )
Supplement: PATH-250-346-s001.pdf

TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Bussaglia E et al.

Molecular Genetics & Genomic Medicine, 2019

31187595 (PubMed )
Supplement: MGG3-7-e00772-s004.doc

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

Landscape of TET2 mutations in acute myeloid leukemia.

Weissmann S et al.

Leukemia, 2012

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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."