Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1387S
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TET2

NM_001127208.3:p.N1387S

Associated Papers

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc14.xlsx › Sheet1

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

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S10

Neomorphic leukemia-derived mutations in the TET2 enzyme induce genome instability via a substrate shift from 5-methylcytosine to thymine.

Jin GB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Detection and Interpretation of Clonal Hematopoiesis Variants during Routine Solid Tumor Next-Generation Sequencing: A Single-Institution Experience.

Menon A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Lemoine S et al.

Haematologica, 2022

35833299 (PubMed )
Supplement: 2022_280917_LEMOINE_SUPPL.pdf

Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Gutierrez-Rodrigues F et al.

Haematologica, 2022

34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Uddin MM et al.

Immunity & Ageing : I & A, 2022

35610705 (PubMed )
Supplement: 12979_2022_278_MOESM2_ESM.xlsx › Table_S2

Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis.

Chen J et al.

Leukemia, 2022

Linking the KIR phenotype with STAT3 and TET2 mutations to identify chronic lymphoproliferative disorders of NK cells.

Pastoret C et al.

Blood, 2021

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Arindrarto W et al.

Leukemia, 2021

32127641 (PubMed )
Supplement: 41375_2020_762_MOESM1_ESM.pdf

SCN8A mutation in a child presenting with seizures and developmental delays.

Malcolmson J et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_denovo.csv
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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."