Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF2
Variant:p.L444P
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SERPINF2

NM_000934.4:p.L444P

Associated Papers

Design of a stable human acid-β-glucosidase: towards improved Gaucher disease therapy and mutation classification.

Pokorna S et al.

The Febs Journal, 2023

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J et al.

Jimd Reports, 2017

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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."