Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M1I
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ETV6

NM_001987.5:p.M1I

Associated Papers

Rare germline variant contributions to myeloid malignancy susceptibility.

Li ST et al.

Leukemia, 2020

DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.

Quesada AE et al.

American Journal of Hematology, 2019

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Cardoso SR et al.

Leukemia, 2016

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.

Li R et al.

Haematologica, 2016

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

Tornovsky S et al.

The Journal of Clinical Endocrinology and Metabolism, 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."