Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.E540K
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GUSB

NM_000181.4:p.E540K

Associated Papers

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ031

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

Tomatsu S et al.

Human Mutation, 2009

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning.

Okuno T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."