Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.Y335S
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NAGLU

NM_000263.4:p.Y335S

Associated Papers

Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.

Moeinifar N et al.

Molecular Biology Reports, 2025

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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."