Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R168L
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GAA

NM_000152.5:p.R168L

Associated Papers

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Omar A et al.

The Malaysian Journal of Pathology, 2025

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.

Limgala RP et al.

Jimd Reports, 2021

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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."