Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.Y447H
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ZBTB18

NM_205768.3:p.Y447H

Associated Papers

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.

Li N et al.

Neurogenetics, 2023

Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.

Blake S et al.

Acs Chemical Neuroscience, 2021

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

van der Schoot V et al.

Molecular Genetics & Genomic Medicine, 2018

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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."