Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.G970A
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PEX1

NM_000466.3:p.G970A

Associated Papers

Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.

Alamatsaz M et al.

Journal of Cellular Biochemistry, 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."