Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.S780L
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DNMT3B

NM_006892.4:p.S780L

Associated Papers

The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory.

Poondi Krishnan V et al.

Genome Research, 2023

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Velasco G et al.

Orphanet Journal of Rare Diseases, 2014

24742017 (PubMed )
Supplement: 1750-1172-9-56-S2.pdf

Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.

Yehezkel S et al.

Frontiers in Oncology, 2013

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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."