Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.R49Q
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ZBTB24

NM_014797.3:p.R49Q

Associated Papers

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.

Givol O et al.

Human Molecular Genetics, 2026

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

A case report of multiple primary prostate tumors with differential drug sensitivity.

Wilkinson S et al.

Nature Communications, 2020

32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3

A functional assay to classify ZBTB24 missense variants of unknown significance.

Wu H et al.

Human Mutation, 2019

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N et al.

European Journal of Human Genetics : Ejhg, 2017

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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."