Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.S539_Q551delFs
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GUSB

NM_000181.4:p.S539_Q551delFs

Associated Papers

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.

Furlan F et al.

Italian Journal of Pediatrics, 2018

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."