File:Beck–Fahrner syndrome or TET3 deficiency episignature.png

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Beck–Fahrner syndrome or TET3 deficiency episignature

Summary

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Description
English: a. Each row represents a CpG probe (binding to each CpG site where DNA demethylation can occur), and each column represents an individual's sample. The color scale from blue to red indicates the DNA methylation level, ranging from 0 (no methylation) to 1 (fully methylated). The episignatures of pathogenic TET3 mutations display DNA hypermethylation in comparison to matched and family controls.

b. Multidimensional scaling can assist in stratifying TET3 variants of uncertain significance (VUS) as either pathogenic or benign.

Note: bi-allelic (BA); mono-allelic (MA)
Date
Source

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576018/bin/41525_2021_256_MOESM1_ESM.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576018/
Author Levy et al.

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