Varaico: Literature-Extracted Genetic Variants

Gene:PEX5
Variant:p.V242G
Back to variants list

PEX5

NM_001131023.2:p.V242G

Associated Papers

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T et al.

Human Molecular Genetics, 2015

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."