Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.H241L
Back to variants list

PEX7

NM_000288.4:p.H241L

Associated Papers

The type-2 peroxisomal targeting signal.

Kunze M

Biochimica Et Biophysica Acta. Molecular Cell Research, 2020

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM et al.

American Journal of Human Genetics, 2002

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."