Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.E451K
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GUSB

NM_000181.4:p.E451K

Associated Papers

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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