Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.S312_W313insFs
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DNMT3A

NM_022552.5:p.S312_W313insFs

Associated Papers

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries AR et al.

Genome Research, 2019

Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

Liu Z et al.

Molecular Neurobiology, 2018

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K et al.

Wellcome Open Research, 2018

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Shen W et al.

American Journal of Medical Genetics. Part A, 2017

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K et al.

Nature Genetics, 2014

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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."