Varaico: Literature-Extracted Genetic Variants

Gene:ZNF526
Variant:p.R459Q
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ZNF526

NM_133444.3:p.R459Q

Associated Papers

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

Li S et al.

Molecular Genetics & Genomic Medicine, 2025

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.

Dentici ML et al.

Journal of Medical Genetics, 2022

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."