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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

Crossref DOI link: https://doi.org/10.1007/s11033-025-10874-9

Published Online: 2025-08-04

Published Print: 2025-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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