Varaico: Literature-Extracted Genetic Variants

Gene:PEX2
Variant:p.Q214delFs
Back to variants list

PEX2

NM_000318.3:p.Q214delFs

Associated Papers

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS et al.

Human Mutation, 2011

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

Gootjes J et al.

Pediatric Research, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."