Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L30P
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TET2

NM_001127208.3:p.L30P

Associated Papers

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

West RR et al.

Blood Advances, 2022

34529785 (PubMed )
Supplement: advancesADV2021005065-suppl1.pdf

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S2

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

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
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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."