Varaico: Literature-Extracted Genetic Variants

Gene:TET3
Variant:p.R752C
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TET3

NM_001287491.2:p.R752C

Associated Papers

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.

Seyama R et al.

Journal of Human Genetics, 2022

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Levy MA et al.

Npj Genomic Medicine, 2021

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Nonsynonymous_SNV_All_YUHS

Neurodevelopmental Disorder Defined in TET3-Deficient Individuals.

Unknown Author

American Journal of Medical Genetics. Part A, 2020

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