Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.A442V
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GUSB

NM_000181.4:p.A442V

Associated Papers

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Gónzalez-Meneses A et al.

Orphanet Journal of Rare Diseases, 2021

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.

Scott CR et al.

The Journal of Pediatrics, 2020

Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.

Sisinni L et al.

Pediatric Transplantation, 2018

Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene.

Abecia Martínez EI et al.

Revista Espanola De Patologia : Publicacion Oficial De La Sociedad Espanola De Anatomia Patologica Y De La Sociedad Espanola De Citologia, 0

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