Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.S312fs
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DNMT3A

NM_022552.5:p.S312fs

Associated Papers

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

German RJ et al.

American Journal of Medical Genetics. Part A, 2025

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

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."