Varaico: Literature-Extracted Genetic Variants

Gene:ZNF526
Variant:p.H303insFs
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ZNF526

NM_133444.3:p.H303insFs

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

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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."