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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX10

Variant:p.E298*

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PEX10

NM_153818.2:p.E298*

hg38:chr1:2406564 C>A

Associated Papers

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Dranchak PK et al.

Journal of Cellular Biochemistry, 2011

21465523 (PubMed )

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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."