Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.R436H
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ZBTB18

NM_205768.3:p.R436H

Associated Papers

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

Blake S et al.

Acs Chemical Neuroscience, 2021

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

Hemming IA et al.

Human Mutation, 2020

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Trinh J et al.

Journal of Neurodevelopmental Disorders, 2019

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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."