Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.Q486E
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ZBTB18

NM_205768.3:p.Q486E

Associated Papers

General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.

Hemming IA et al.

Human Mutation, 2020

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

van der Schoot V et al.

Molecular Genetics & Genomic Medicine, 2018

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS et al.

Clinical Genetics, 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."