Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.R577fs
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PEX1

NM_000466.3:p.R577fs

Associated Papers

Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.

Ge MM et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."