Varaico: Literature-Extracted Genetic Variants

Gene:SCARB2
Variant:p.H341fs
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SCARB2

NM_005506.4:p.H341fs

Associated Papers

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Pavan E et al.

International Journal of Molecular Sciences, 2024

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

Tian WT et al.

Seizure, 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."