Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.P364S
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GUSB

NM_000181.4:p.P364S

Associated Papers

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

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.

Li D et al.

Prenatal Diagnosis, 2018

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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."