Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R571H
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TET2

NM_001127208.3:p.R571H

Associated Papers

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

Wu X et al.

Bmc Cancer, 2022

A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.

Xue J et al.

The Kaohsiung Journal of Medical Sciences, 2020

Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.

Xue J et al.

Annals of Translational Medicine, 2019

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

Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Mondejar R et al.

Plos One, 2017

28505169 (PubMed )
Supplement: pone.0177524.s006.xlsx › Supplementary_table_6

[Pedigree investigation of clinicopathologic features and alpha-galactosidase A gene mutation in a family with Fabry disease].

Liu XX et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2012

[Investigation of family pedigree rare blood group of JK(a-b-) phenotype].

Gong TX et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2012

[JAK2V617F mutation in the patients with myeloproliferative disorder and its relation with clinical characteristics].

Zhu JF et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2011

[Mutation of tet2 gene and malignant blood disease].

Qian XF et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

[Report of gene mutation hot spots analysis in one congenital cataract pedigree].

Zhang X et al.

Yan Ke Xue Bao = Eye Science, 2004

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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."