Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.D362N
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GUSB

NM_000181.4:p.D362N

Associated Papers

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.

Makhamreh MM et al.

Orphanet Journal of Rare Diseases, 2025

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Montaño AM et al.

Journal of Medical Genetics, 2016

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Tomatsu S et al.

Human Mutation, 2009

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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."