Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.H424Y
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GUSB

NM_000181.4:p.H424Y

Associated Papers

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

Su X et al.

European Journal of Medical Genetics, 2024

Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.

Chandler NJ et al.

Prenatal Diagnosis, 2023

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.

Yang C et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 2019

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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."